Variant report

Variant	rs2394185
Chromosome Location	chr6:29816371-29816372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29815545..29816511-chr6:30004700..30005650,3	MCF-7	breast:
2	chr6:29815519..29816578-chr6:29980839..29982014,6	MCF-7	breast:
3	chr6:29815502..29816513-chr6:29980468..29982151,21	K562	blood:
4	chr6:29814850..29816996-chr6:29980272..29982111,2	MCF-7	breast:
5	chr6:29815601..29816421-chr6:30004834..30005555,3	MCF-7	breast:
6	chr6:29815528..29816550-chr6:29935117..29936165,4	MCF-7	breast:
7	chr6:29815002..29816640-chr6:29980850..29981857,19	MCF-7	breast:
8	chr6:29815484..29816856-chr6:30098503..30099361,8	K562	blood:

No data

Extended variants
information (count: 111 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs16896051	0.93[ASN][1000 genomes]
rs16896119	0.96[ASN][1000 genomes]
rs17179234	0.96[ASN][1000 genomes]
rs17179241	0.96[ASN][1000 genomes]
rs17185657	0.96[ASN][1000 genomes]
rs17875410	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2017525	0.82[EUR][1000 genomes]
rs2107198	0.96[ASN][1000 genomes]
rs2394183	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2394184	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2394186	0.98[ASN][1000 genomes]
rs28457697	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28552659	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28590416	0.87[ASN][1000 genomes]
rs28669293	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28728843	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28728869	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28743648	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28764567	0.96[ASN][1000 genomes]
rs28764571	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28764613	0.99[ASN][1000 genomes]
rs28764628	0.99[ASN][1000 genomes]
rs28764750	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2894118	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34918044	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3928943	0.96[ASN][1000 genomes]
rs55799039	1.00[ASN][1000 genomes]
rs56026100	0.94[ASN][1000 genomes]
rs58005484	0.82[ASN][1000 genomes]
rs59098250	0.93[ASN][1000 genomes]
rs59387409	0.88[ASN][1000 genomes]
rs60562052	0.81[ASN][1000 genomes]
rs60562637	0.85[ASN][1000 genomes]
rs60788372	0.85[ASN][1000 genomes]
rs61244561	0.86[ASN][1000 genomes]
rs6902658	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6922605	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72838204	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72838292	0.91[ASN][1000 genomes]
rs72838605	0.88[ASN][1000 genomes]
rs72838606	0.87[ASN][1000 genomes]
rs72838607	0.87[ASN][1000 genomes]
rs72838623	0.85[ASN][1000 genomes]
rs72838626	0.85[ASN][1000 genomes]
rs72838635	0.82[ASN][1000 genomes]
rs72838640	0.81[ASN][1000 genomes]
rs72842103	0.93[ASN][1000 genomes]
rs72843669	0.98[ASN][1000 genomes]
rs72843672	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72843675	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72843700	0.99[ASN][1000 genomes]
rs72843818	0.83[EUR][1000 genomes]
rs72845903	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72845906	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72845913	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72845918	0.96[ASN][1000 genomes]
rs72845950	0.96[ASN][1000 genomes]
rs72848609	0.90[ASN][1000 genomes]
rs72848649	0.90[ASN][1000 genomes]
rs72848650	0.90[ASN][1000 genomes]
rs72848652	0.90[ASN][1000 genomes]
rs72848653	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72848654	0.86[ASN][1000 genomes]
rs72848659	0.90[ASN][1000 genomes]
rs73725442	0.89[ASN][1000 genomes]
rs73725445	0.90[ASN][1000 genomes]
rs73745607	0.96[ASN][1000 genomes]
rs73747715	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9258568	0.87[ASN][1000 genomes]
rs9258570	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

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	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv3423001	chr6:29733216-29878601	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv3420260	chr6:29734457-29835593	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv3330285	chr6:29736281-29881328	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	esv3396224	chr6:29754243-29888093	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	esv3354193	chr6:29773857-29867902	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	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
17	esv3369144	chr6:29775824-29872385	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv3500392	chr6:29777854-29871802	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	esv3500393	chr6:29777854-29871802	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	esv3384912	chr6:29778488-29872579	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	esv3431922	chr6:29779132-29873171	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	esv3338581	chr6:29780045-29890754	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	esv20324	chr6:29793378-29832922	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
28	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
29	nsv883542	chr6:29804176-29816371	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
30	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
31	nsv883543	chr6:29812030-29818092	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	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
33	esv1849820	chr6:29813519-29816533	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	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
35	esv3529703	chr6:29814323-29816521	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv1826662	chr6:29814697-29816533	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	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
38	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
39	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
40	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
41	esv20595	chr6:29815609-29874977	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2394185	HLA-G	cis	lymphoblastoid	seeQTL
rs2394185	LOC347981	cis	multi-tissue	Pritchard
rs2394185	HLA-A	cis	lymphoblastoid	seeQTL
rs2394185	HLA-L	cis	lymphoblastoid	seeQTL
rs2394185	HLA-G	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29815600-29816400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr6:29815800-29817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:29816000-29816400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
5	chr6:29816000-29816400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr6:29816200-29816400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr6:29816200-29816400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr6:29816200-29816600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:29816200-29816600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:29816200-29817000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr6:29816200-29818000	Weak transcription	Gastric	stomach

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