Variant report

Variant	rs4394310
Chromosome Location	chr7:149580368-149580369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:149580323-149580406	GM12878	blood:	n/a	n/a
2	SMC3	chr7:149580258-149581514	SK-N-SH	brain:	n/a	chr7:149581277-149581285
3	ELF1	chr7:149580338-149580796	K562	blood:	n/a	chr7:149580566-149580579
4	RAD21	chr7:149580328-149580945	H1-hESC	embryonic stem cell:	n/a	chr7:149580671-149580690
5	ZNF384	chr7:149580221-149580919	K562	blood:	n/a	n/a
6	ELF1	chr7:149580266-149580930	MCF-7	breast:	n/a	chr7:149580566-149580579
7	RAD21	chr7:149580333-149580979	HCT-116	colon:	n/a	chr7:149580671-149580690
8	RAD21	chr7:149580275-149581603	SK-N-SH	brain:	n/a	chr7:149581102-149581116 chr7:149580671-149580690
9	CTCF	chr7:149580317-149581078	HCT-116	colon:	n/a	chr7:149580672-149580693 chr7:149580670-149580688
10	CTCF	chr7:149580280-149580430	HAc	cerebellar:	n/a	n/a
11	CTCF	chr7:149580304-149581296	A549	lung:	n/a	chr7:149580672-149580693 chr7:149581276-149581284 chr7:149580670-149580688
12	CTCF	chr7:149580346-149580954	MCF-7	breast:	n/a	chr7:149580672-149580693 chr7:149580670-149580688
13	CTCF	chr7:149580364-149581017	MCF-7	breast:	n/a	chr7:149580672-149580693 chr7:149580670-149580688
14	RAD21	chr7:149580360-149580973	ECC-1	luminal epithelium:	n/a	chr7:149580671-149580690
15	CTCF	chr7:149580320-149580470	HCT-116	colon:	n/a	n/a
16	CTCF	chr7:149580320-149580470	AG09319	gingival:	n/a	n/a
17	POLR2A	chr7:149580111-149580408	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:149580086-149580802	HepG2	liver:	n/a	n/a
19	YY1	chr7:149580358-149580873	H1-hESC	embryonic stem cell:	n/a	chr7:149580753-149580775
20	CTCF	chr7:149579954-149581535	SK-N-SH	brain:	n/a	chr7:149580672-149580693 chr7:149581276-149581284 chr7:149580670-149580688
21	RAD21	chr7:149580307-149581108	HCT-116	colon:	n/a	chr7:149580671-149580690

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
2	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:

Variant related genes	Relation type
ATP6V0E2-AS1	TF binding region
ENSG00000273293	TF binding region
ENSG00000204934	Chromatin interaction
ENSG00000171130	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10240203	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10241201	0.84[EUR][1000 genomes]
rs10246226	0.85[EUR][1000 genomes]
rs10247524	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10270385	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10807975	0.84[EUR][1000 genomes]
rs10807976	0.84[EUR][1000 genomes]
rs10952234	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1133480	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13243007	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17756342	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859529	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074700	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074701	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074702	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240361	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240363	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735330	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735331	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735332	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735333	0.83[EUR][1000 genomes]
rs3735334	0.88[EUR][1000 genomes]
rs4281039	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4281040	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4281041	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4348397	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400299	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4401760	0.82[EUR][1000 genomes]
rs4419731	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4469371	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4725316	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4725834	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725835	0.82[EUR][1000 genomes]
rs4725836	0.82[EUR][1000 genomes]
rs4725838	0.85[EUR][1000 genomes]
rs6946997	0.82[EUR][1000 genomes]
rs6949457	0.88[EUR][1000 genomes]
rs6967083	0.84[EUR][1000 genomes]
rs6976451	0.85[EUR][1000 genomes]
rs6977798	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980166	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980260	0.85[EUR][1000 genomes]
rs6980277	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7785847	0.85[EUR][1000 genomes]
rs7799585	0.85[EUR][1000 genomes]
rs7805600	0.85[EUR][1000 genomes]
rs7806830	0.84[EUR][1000 genomes]
rs7806974	0.85[EUR][1000 genomes]
rs917113	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9640266	0.83[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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	nsv1016446	chr7:149559673-149743092	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
50	nsv1017147	chr7:149559673-149748966	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4394310	LOC401431,ATP6V0E2	cis	brain	BrainEAC
rs4394310	ATP6V0E2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149571600-149580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:149571600-149581800	Weak transcription	Right Atrium	heart
3	chr7:149571600-149582400	Weak transcription	Psoas Muscle	Psoas
4	chr7:149571600-149586600	Weak transcription	Small Intestine	intestine
5	chr7:149571800-149582800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:149571800-149582800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:149572000-149580800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:149572000-149582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:149572000-149584200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:149572200-149580600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:149572400-149580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:149572400-149580800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:149572600-149580400	Enhancers	Fetal Brain Male	brain
14	chr7:149572600-149580800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:149572600-149581800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:149573200-149580400	Weak transcription	GM12878-XiMat	blood
17	chr7:149573600-149580400	Weak transcription	Fetal Intestine Small	intestine
18	chr7:149573800-149580400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:149573800-149580600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:149575000-149580400	Genic enhancers	Brain Germinal Matrix	brain
21	chr7:149575000-149581000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:149575200-149580400	Weak transcription	Fetal Kidney	kidney
23	chr7:149575400-149584000	Enhancers	Fetal Muscle Leg	muscle
24	chr7:149576200-149582800	Enhancers	Brain Substantia Nigra	brain
25	chr7:149576200-149584000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:149576400-149580400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:149576800-149582800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:149576800-149583800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:149577000-149580800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:149577200-149582200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:149577400-149580600	Weak transcription	Gastric	stomach
32	chr7:149577600-149580400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:149577600-149580400	Weak transcription	Fetal Thymus	thymus
34	chr7:149577600-149580400	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:149577600-149582200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:149577600-149582200	Enhancers	Colon Smooth Muscle	Colon
37	chr7:149577600-149582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:149577600-149583000	Enhancers	Pancreas	Pancrea
39	chr7:149577800-149580400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:149577800-149582000	Weak transcription	Dnd41	blood
41	chr7:149578000-149580800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:149578000-149580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:149578000-149581000	Enhancers	Colonic Mucosa	Colon
44	chr7:149578200-149580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:149578200-149580600	Weak transcription	Spleen	Spleen
46	chr7:149578200-149582800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:149578200-149586200	Weak transcription	Thymus	Thymus
48	chr7:149578400-149580400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:149578400-149580600	Weak transcription	Stomach Mucosa	stomach
50	chr7:149578400-149581400	Enhancers	Brain Anterior Caudate	brain

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