Variant report

Variant	rs2517775
Chromosome Location	chr6:29893960-29893961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29893889-29895314	IMR90	lung:	n/a	n/a
2	RFX5	chr6:29893900-29894273	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMARCC1	chr6:29893706-29894824	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:29893773-29895220	GM18526	blood:	n/a	n/a
5	SMARCB1	chr6:29893601-29895282	Hela-S3	cervix:	n/a	n/a
6	RELA	chr6:29893804-29895242	GM15510	blood:	n/a	n/a
7	TAF1	chr6:29893818-29893987	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:29893820-29895396	GM19193	blood:	n/a	n/a
9	POLR2A	chr6:29892647-29895342	Hela-S3	cervix:	n/a	n/a
10	STAT5A	chr6:29893850-29894276	GM12878	blood:	n/a	n/a
11	MAZ	chr6:29893899-29895216	Hela-S3	cervix:	n/a	n/a
12	RELA	chr6:29893895-29895539	GM10847	blood:	n/a	n/a
13	POLR2A	chr6:29893780-29894121	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr6:29893728-29895147	Hela-S3	cervix:	n/a	n/a
15	RELA	chr6:29893880-29895244	GM12892	blood:	n/a	n/a
16	POLR2A	chr6:29893851-29894041	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:29893872-29895154	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:29893877-29895316	HepG2	liver:	n/a	n/a
19	RFX5	chr6:29893734-29894746	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:29893960-29894916	HepG2	liver:	n/a	n/a
21	RFX5	chr6:29893621-29894308	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:29893859-29894080	MCF10A-Er-Src	breast:	n/a	n/a
23	CHD2	chr6:29893872-29894238	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:29893724-29895164	Hela-S3	cervix:	n/a	n/a
25	MYBL2	chr6:29893820-29894201	HepG2	liver:	n/a	n/a
26	CREB1	chr6:29893933-29894168	A549	lung:	n/a	n/a
27	POLR2A	chr6:29893620-29894918	PANC-1	pancreas:	n/a	n/a
28	RFX5	chr6:29893627-29895323	IMR90	lung:	n/a	n/a
29	POU2F2	chr6:29893929-29895292	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:29893877-29895189	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr6:29893869-29894069	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr6:29893635-29896850	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:29893855-29894246	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:29893709-29895279	GM12892	blood:	n/a	n/a
35	RELA	chr6:29893860-29895218	GM19193	blood:	n/a	n/a
36	ELF1	chr6:29893702-29895324	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:29893780-29894869	GM12892	blood:	n/a	n/a
38	RFX5	chr6:29893879-29894278	HepG2	liver:	n/a	n/a
39	HEY1	chr6:29893793-29894441	HepG2	liver:	n/a	n/a
40	RUNX3	chr6:29893898-29894142	GM12878	blood:	n/a	n/a
41	ELF1	chr6:29893956-29894179	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:29893780-29895230	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:29893622-29895320	GM15510	blood:	n/a	n/a
44	POLR2A	chr6:29893889-29895231	GM19099	blood:	n/a	n/a
45	POLR2A	chr6:29893635-29895062	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:29893872-29894273	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:29893630-29894006	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:29893763-29894904	GM12892	blood:	n/a	n/a
49	USF2	chr6:29893895-29894238	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:29893714-29895345	GM18505	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29893926-29893976	H1-hESC	embryonic stem cell:	embryo
2	chr6:29893955-29894005	AG09309	skin:	n/a
3	chr6:29893944-29893994	HNPCEpiC	eye:	n/a
4	chr6:29893944-29893994	CMK	blood:	n/a
5	chr6:29893955-29894005	Caco-2	colon:	n/a
6	chr6:29893926-29893976	GM06990	blood:	n/a
7	chr6:29893944-29893994	IMR90	lung:	fetal
8	chr6:29893955-29894005	RPTEC	kidney:	n/a
9	chr6:29893926-29893976	HCPEpiC	choroid plexus:	n/a
10	chr6:29893955-29894005	U87	brain:	n/a
11	chr6:29893944-29893994	NH-A	brain:	n/a
12	chr6:29893944-29893994	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:29893955-29894005	T-47D	breast:	n/a
14	chr6:29893944-29893994	GM12878	blood:	n/a
15	chr6:29893955-29894005	K562	blood:	n/a
16	chr6:29893926-29893976	AG09309	skin:	n/a
17	chr6:29893955-29894005	HMEC	breast:	n/a
18	chr6:29893944-29893994	HRCEpiC	kidney:	n/a
19	chr6:29893944-29893994	T-47D	breast:	n/a
20	chr6:29893955-29894005	SK-N-MC	brain:	n/a
21	chr6:29893926-29893976	NB4	blood:	n/a
22	chr6:29893944-29893994	Jurkat	blood:	n/a
23	chr6:29893955-29894005	A549	lung:	n/a
24	chr6:29893944-29893994	AG10803	skin:	n/a
25	chr6:29893926-29893976	U87	brain:	n/a
26	chr6:29893926-29893976	HCT-116	colon:	n/a
27	chr6:29893926-29893976	PrEC	prostate:	n/a
28	chr6:29893944-29893994	AG09309	skin:	n/a
29	chr6:29893926-29893976	HRPEpiC	eye:	n/a
30	chr6:29893955-29894005	HRCEpiC	kidney:	n/a
31	chr6:29893926-29893976	MCF10A-Er-Src	breast:	n/a
32	chr6:29893955-29894005	GM12878	blood:	n/a
33	chr6:29893955-29894005	AG10803	skin:	n/a
34	chr6:29893955-29894005	Hepatocyte	liver:	n/a
35	chr6:29893926-29893976	GM12892	blood:	n/a
36	chr6:29893944-29893994	NHDF-neo	bronchial:	n/a
37	chr6:29893926-29893976	HAEpiC	amniotic membrane:	n/a
38	chr6:29893944-29893994	HCPEpiC	choroid plexus:	n/a
39	chr6:29893926-29893976	GM19239	blood:	n/a
40	chr6:29893944-29893994	A549	lung:	n/a
41	chr6:29893955-29894005	HepG2	liver:	n/a
42	chr6:29893955-29894005	HCPEpiC	choroid plexus:	n/a
43	chr6:29893926-29893976	HCF	heart:	n/a
44	chr6:29893944-29893994	ovcar-3	ovarian:	n/a
45	chr6:29893955-29894005	HRPEpiC	eye:	n/a
46	chr6:29893926-29893976	HEK293	kidney:	embryo
47	chr6:29893944-29893994	GM06990	blood:	n/a
48	chr6:29893955-29894005	HNPCEpiC	eye:	n/a
49	chr6:29893944-29893994	SK-N-SH_RA	brain:	n/a
50	chr6:29893926-29893976	HPAEpiC	pulmonary alveolar:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29893539..29894557-chr6:29909423..29910876,3	Hela-S3	cervix:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF39-11	chr6:29893760-29894750	NONHSAT108564
2	lnc-RNF39-11	chr6:29893701-29894992	NR_001317

No data

Variant related genes	Relation type
HLA-K	TF binding region
HLA-K	CpG island
ENSG00000206503	Chromatin interaction
ENSG00000227766	Chromatin interaction

Extended variants
information (count: 531 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12660668	0.82[ASN][1000 genomes]
rs1610750	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1610752	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1610753	0.87[AFR][1000 genomes]
rs1611395	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611396	0.87[ASN][1000 genomes]
rs1611399	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1611419	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1611420	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1611421	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1611422	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1611423	0.84[ASN][1000 genomes]
rs1611424	0.86[ASN][1000 genomes]
rs1611425	0.86[ASN][1000 genomes]
rs1611460	0.80[ASN][1000 genomes]
rs1611468	0.80[ASN][1000 genomes]
rs1627208	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1632903	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1655933	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1655934	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1655935	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2394703	0.82[ASN][1000 genomes]
rs2428523	0.80[ASN][1000 genomes]
rs2508041	0.88[ASN][1000 genomes]
rs2517753	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2517762	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2517763	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2517773	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517774	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517776	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2524013	0.82[ASN][1000 genomes]
rs2524016	0.82[ASN][1000 genomes]
rs2571428	0.82[ASN][1000 genomes]
rs28360006	0.81[ASN][1000 genomes]
rs28360009	0.81[ASN][1000 genomes]
rs2905774	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2975012	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34146016	0.80[ASN][1000 genomes]
rs34354617	0.81[ASN][1000 genomes]
rs35114469	0.81[ASN][1000 genomes]
rs35575266	0.80[ASN][1000 genomes]
rs378555	0.93[ASN][1000 genomes]
rs388510	0.82[ASN][1000 genomes]
rs388521	0.82[ASN][1000 genomes]
rs3957004	0.83[ASN][1000 genomes]
rs3998675	0.82[ASN][1000 genomes]
rs3998676	0.82[ASN][1000 genomes]
rs427995	0.82[ASN][1000 genomes]
rs448277	0.80[ASN][1000 genomes]
rs6921957	0.80[ASN][1000 genomes]
rs6927115	0.81[ASN][1000 genomes]
rs72495986	0.81[ASN][1000 genomes]
rs72498347	0.81[ASN][1000 genomes]
rs72498352	0.80[ASN][1000 genomes]
rs9259843	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3332677	chr6:29733187-29961463	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3475027	chr6:29733297-29922699	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3475028	chr6:29733297-29922699	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3430372	chr6:29759523-29974277	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv3426050	chr6:29761594-29918407	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv3431350	chr6:29765473-29922767	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3451016	chr6:29774115-29929436	Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	esv17468	chr6:29782014-29923275	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv3411103	chr6:29783090-29930409	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2758040	chr6:29792434-29975144	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2759412	chr6:29792434-29975144	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv3391180	chr6:29798321-29977430	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	esv1828587	chr6:29809138-29904721	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv1849827	chr6:29812776-29918720	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	esv1851637	chr6:29813719-29912800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv820564	chr6:29814830-29923275	Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
20	nsv823469	chr6:29814830-29923275	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv601232	chr6:29814977-29895250	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv601233	chr6:29814977-29896659	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	esv1845786	chr6:29817123-29955129	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
24	esv1810372	chr6:29817323-29913915	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
25	esv1822590	chr6:29817323-29913915	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
26	esv1848127	chr6:29817323-29966451	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
27	esv3346286	chr6:29818834-29908132	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	esv1819995	chr6:29824229-29904721	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	esv1810879	chr6:29824229-29917771	Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
30	esv1848221	chr6:29824229-29918837	Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
31	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
32	esv3369212	chr6:29827361-29960177	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
33	nsv432859	chr6:29828972-29898897	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	esv1794708	chr6:29829340-29912800	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
35	esv1831742	chr6:29829340-29912800	Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	esv1803223	chr6:29829390-29913627	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
37	esv1812939	chr6:29830358-29913929	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
38	esv1824193	chr6:29831309-29925490	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
39	esv32544	chr6:29831716-29944103	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
40	esv1811402	chr6:29832066-29915156	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
41	esv1813799	chr6:29832266-29913929	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
42	esv1824141	chr6:29832266-29924807	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
43	esv1846778	chr6:29832911-29913627	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
44	esv1848196	chr6:29833812-29913000	Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
45	esv2757159	chr6:29834472-29965501	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
46	esv3376588	chr6:29834667-29964324	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
47	esv2756061	chr6:29836463-29915993	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
48	esv2752113	chr6:29836463-29916253	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
49	esv2753490	chr6:29836463-29916253	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
50	esv2763941	chr6:29836636-29921127	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2517775	HLA-J	cis	Whole Blood	GTEx
rs2517775	HLA-A	cis	Muscle Skeletal	GTEx
rs2517775	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2517775	HLA-U	cis	Skin Sun Exposed Lower leg	GTEx
rs2517775	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs2517775	IFITM4P	cis	Thyroid	GTEx
rs2517775	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs2517775	ZFP57	cis	Whole Blood	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29888800-29894400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:29892800-29894400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:29893200-29894400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr6:29893200-29894400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:29893200-29895200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:29893200-29895400	Active TSS	Esophagus	oesophagus
7	chr6:29893400-29894200	Flanking Active TSS	NHEK	skin
8	chr6:29893400-29895000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:29893400-29895000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:29893400-29895400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:29893400-29895400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:29893400-29895400	Active TSS	Liver	Liver
13	chr6:29893600-29894000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:29893600-29894000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:29893600-29894000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr6:29893600-29894000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr6:29893600-29894200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr6:29893600-29894200	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr6:29893600-29894200	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:29893600-29894200	Flanking Active TSS	HepG2	liver
21	chr6:29893600-29894400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:29893600-29894400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr6:29893600-29894400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:29893600-29894600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:29893600-29894600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr6:29893600-29894600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:29893600-29894600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:29893600-29895000	Active TSS	Colon Smooth Muscle	Colon
29	chr6:29893600-29895400	Flanking Active TSS	HMEC	breast
30	chr6:29893800-29894000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:29893800-29894000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr6:29893800-29894000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:29893800-29894000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:29893800-29894000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:29893800-29894000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:29893800-29894000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:29893800-29894000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:29893800-29894000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:29893800-29894000	Active TSS	Brain Cingulate Gyrus	brain
40	chr6:29893800-29894000	Flanking Active TSS	Fetal Lung	lung
41	chr6:29893800-29894000	Active TSS	Left Ventricle	heart
42	chr6:29893800-29894000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:29893800-29894000	Active TSS	Small Intestine	intestine
44	chr6:29893800-29894000	Flanking Active TSS	Spleen	Spleen
45	chr6:29893800-29894000	Bivalent/Poised TSS	NH-A	brain
46	chr6:29893800-29894000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr6:29893800-29894000	Flanking Active TSS	NHLF	lung
48	chr6:29893800-29894200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr6:29893800-29894200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr6:29893800-29894200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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