Variant report

Variant	rs17756342
Chromosome Location	chr7:149567098-149567099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:149566918-149567279	GM12878	blood:	n/a	chr7:149567122-149567133
2	RUNX3	chr7:149566955-149567406	GM12878	blood:	n/a	n/a
3	EBF1	chr7:149566865-149567326	GM12878	blood:	n/a	chr7:149567122-149567133
4	POLR2A	chr7:149566894-149567109	HepG2	liver:	n/a	n/a
5	RUNX3	chr7:149566925-149567419	GM12878	blood:	n/a	n/a
6	NFE2	chr7:149567074-149567180	GM12878	blood:	n/a	n/a
7	MTA3	chr7:149566789-149567469	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149567078-149567128	NB4	blood:	n/a
2	chr7:149567078-149567128	H1-hESC	embryonic stem cell:	embryo
3	chr7:149567078-149567128	GM06990	blood:	n/a
4	chr7:149567078-149567128	NT2-D1	testis:	n/a
5	chr7:149567078-149567128	HNPCEpiC	eye:	n/a
6	chr7:149567078-149567128	BE2_C	brain:	n/a
7	chr7:149567078-149567128	PFSK-1	brain:	n/a
8	chr7:149567078-149567128	SK-N-SH_RA	brain:	n/a
9	chr7:149567078-149567128	PrEC	prostate:	n/a
10	chr7:149567078-149567128	SK-N-MC	brain:	n/a
11	chr7:149567078-149567128	AG04449	skin:	fetal
12	chr7:149567078-149567128	HEEpiC	esophagus:	n/a
13	chr7:149567078-149567128	NH-A	brain:	n/a
14	chr7:149567078-149567128	AoSMC	blood vessel:	n/a
15	chr7:149567078-149567128	Hela-S3	cervix:	n/a
16	chr7:149567078-149567128	NHBE	bronchial:	n/a
17	chr7:149567078-149567128	A549	lung:	n/a
18	chr7:149567078-149567128	GM12878	blood:	n/a
19	chr7:149567078-149567128	PANC-1	pancreas:	n/a
20	chr7:149567078-149567128	RPTEC	kidney:	n/a
21	chr7:149567078-149567128	HRCEpiC	kidney:	n/a
22	chr7:149567078-149567128	MCF-7	breast:	n/a
23	chr7:149567078-149567128	K562	blood:	n/a
24	chr7:149567078-149567128	SK-N-SH	brain:	n/a
25	chr7:149567078-149567128	HL-60	blood:	n/a
26	chr7:149567078-149567128	MCF10A-Er-Src	breast:	n/a
27	chr7:149567078-149567128	HCM	heart:	n/a
28	chr7:149567078-149567128	HRE	kidney:	n/a
29	chr7:149567078-149567128	T-47D	breast:	n/a
30	chr7:149567078-149567128	HAEpiC	amniotic membrane:	n/a
31	chr7:149567078-149567128	BJ	skin:	n/a
32	chr7:149567078-149567128	HepG2	liver:	n/a
33	chr7:149567078-149567128	U87	brain:	n/a
34	chr7:149567078-149567128	IMR90	lung:	fetal
35	chr7:149567078-149567128	HCPEpiC	choroid plexus:	n/a
36	chr7:149567078-149567128	HIPEpiC	eye:	n/a
37	chr7:149567078-149567128	SAEC	small airway:	n/a
38	chr7:149567078-149567128	ovcar-3	ovarian:	n/a
39	chr7:149567078-149567128	HRPEpiC	eye:	n/a
40	chr7:149567078-149567128	NHDF-neo	bronchial:	n/a
41	chr7:149567078-149567128	CMK	blood:	n/a
42	chr7:149567078-149567128	AG09319	gingival:	n/a
43	chr7:149567078-149567128	LNCaP	prostate:	n/a
44	chr7:149567078-149567128	AG09309	skin:	n/a
45	chr7:149567078-149567128	HCF	heart:	n/a
46	chr7:149567078-149567128	ProgFib	skin:	n/a
47	chr7:149567078-149567128	GM12891	blood:	n/a
48	chr7:149567078-149567128	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:149567078-149567128	GM19239	blood:	n/a
50	chr7:149567078-149567128	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
2	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP6V0E2	TF binding region
ATP6V0E2	CpG island
ENSG00000204934	Chromatin interaction
ENSG00000171130	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10240203	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241201	0.82[EUR][1000 genomes]
rs10246226	0.83[EUR][1000 genomes]
rs10247524	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs10270385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10807975	0.83[EUR][1000 genomes]
rs10807976	0.83[EUR][1000 genomes]
rs10952234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13243007	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859529	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074700	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074702	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240361	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240363	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373465	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs3735330	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735333	0.92[CEU][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs3735334	0.92[CEU][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs3857764	0.88[CEU][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap]
rs4281039	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4281040	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4281041	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348397	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4394310	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4400299	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4401760	0.84[EUR][1000 genomes]
rs4419731	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4469371	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4725316	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4725834	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725835	0.84[EUR][1000 genomes]
rs4725836	0.84[EUR][1000 genomes]
rs4725838	0.92[CEU][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs6464035	0.89[CEU][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs6946997	0.80[EUR][1000 genomes]
rs6949457	0.87[EUR][1000 genomes]
rs6967083	0.83[EUR][1000 genomes]
rs6976451	0.83[EUR][1000 genomes]
rs6977798	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980260	0.83[EUR][1000 genomes]
rs6980277	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7785847	0.83[EUR][1000 genomes]
rs7799585	0.83[EUR][1000 genomes]
rs7805600	0.83[EUR][1000 genomes]
rs7806830	0.82[EUR][1000 genomes]
rs7806974	0.83[EUR][1000 genomes]
rs917113	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9640266	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1029484	chr7:149539914-149599326	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	esv2753117	chr7:149546703-149806076	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2757242	chr7:149546703-149906047	Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv889413	chr7:149547703-149610781	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv889414	chr7:149547703-149643233	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv889415	chr7:149547703-149643233	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
21	nsv889416	chr7:149547703-149656318	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv889417	chr7:149547703-149658257	Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv889418	chr7:149547703-149658257	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
24	nsv889419	chr7:149547703-149671262	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
25	nsv889420	chr7:149547703-149700526	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
26	nsv889421	chr7:149547703-149741002	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
27	nsv889422	chr7:149547703-149776603	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
28	nsv889423	chr7:149547703-149838371	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
29	nsv889424	chr7:149547703-149865912	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
30	nsv8229	chr7:149549787-149882563	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
31	nsv519323	chr7:149551993-149582906	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
32	nsv465205	chr7:149551993-149583170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
33	nsv465207	chr7:149551993-149583170	Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
34	nsv465208	chr7:149551993-149583170	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
35	nsv608988	chr7:149551993-149583170	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
36	nsv465209	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
37	nsv465210	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
38	nsv608989	chr7:149551993-149585379	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
39	nsv889425	chr7:149551993-149643233	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
40	nsv889426	chr7:149551993-149658257	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
41	nsv889427	chr7:149551993-149683508	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
42	nsv889428	chr7:149551993-149857558	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
43	nsv1022103	chr7:149552534-149681561	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
44	nsv1028178	chr7:149552534-149726806	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
45	nsv889429	chr7:149553819-149647469	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
46	nsv889430	chr7:149553819-149656318	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
47	nsv889431	chr7:149553819-149671262	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
48	nsv889432	chr7:149553819-149844639	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
49	nsv889433	chr7:149553819-149880262	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
50	nsv1035069	chr7:149559673-149695197	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17756342	ATP6V0E2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
2	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:149552200-149569400	Weak transcription	Fetal Kidney	kidney
4	chr7:149552800-149569600	Weak transcription	NHDF-Ad	bronchial
5	chr7:149552800-149569800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:149553000-149567400	Weak transcription	NHLF	lung
7	chr7:149553000-149567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:149553000-149568800	Weak transcription	HSMMtube	muscle
9	chr7:149553200-149569600	Weak transcription	HSMM	muscle
10	chr7:149553200-149569800	Weak transcription	Right Atrium	heart
11	chr7:149553400-149569800	Weak transcription	Small Intestine	intestine
12	chr7:149556000-149568800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr7:149558400-149569600	Weak transcription	Osteobl	bone
14	chr7:149559600-149568800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:149559600-149569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:149559800-149569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:149560000-149569600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:149560600-149570000	Weak transcription	Ovary	ovary
19	chr7:149561600-149569600	Weak transcription	Colonic Mucosa	Colon
20	chr7:149561800-149569800	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:149562000-149569400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:149562000-149570000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:149562200-149568600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:149562200-149568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:149562200-149569600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:149562400-149569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:149562400-149569600	Weak transcription	Left Ventricle	heart
28	chr7:149562600-149569000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:149562600-149569800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:149562800-149569600	Weak transcription	Liver	Liver
31	chr7:149562800-149569600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:149562800-149569800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:149562800-149569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:149563000-149569600	Weak transcription	HUVEC	blood vessel
35	chr7:149563000-149569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:149563400-149567800	Enhancers	Primary B cells from cord blood	blood
37	chr7:149563400-149569600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:149563600-149568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:149563600-149569800	Weak transcription	Gastric	stomach
40	chr7:149563800-149569600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:149563800-149569600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:149564000-149567200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:149564000-149569600	Weak transcription	Fetal Intestine Large	intestine
44	chr7:149564000-149569800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:149564000-149570000	Weak transcription	Aorta	Aorta
46	chr7:149564200-149569600	Weak transcription	Right Ventricle	heart
47	chr7:149564200-149569800	Weak transcription	Pancreas	Pancrea
48	chr7:149564400-149568600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:149564400-149569400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:149564400-149569400	Weak transcription	Brain Angular Gyrus	brain

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