Variant report

Variant	rs4719316
Chromosome Location	chr7:12529826-12529827
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	RAD21	chr7:12529765-12530010	K562	blood:	n/a	chr7:12529919-12529938
2	RFX5	chr7:12529659-12530036	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr7:12529732-12530124	IMR90	lung:	n/a	chr7:12529919-12529938
4	CTCF	chr7:12529700-12530070	H1-hESC	embryonic stem cell:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
5	RAD21	chr7:12529793-12530094	A549	lung:	n/a	chr7:12529919-12529938
6	RAD21	chr7:12529644-12530236	A549	lung:	n/a	chr7:12529919-12529938
7	CTCF	chr7:12529800-12529950	HMEC	breast:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
8	SMC3	chr7:12529805-12530111	K562	blood:	n/a	chr7:12529923-12529937
9	CTCF	chr7:12529343-12530739	SK-N-SH	brain:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
10	RAD21	chr7:12529806-12530004	K562	blood:	n/a	chr7:12529919-12529938
11	CTCF	chr7:12529820-12530051	K562	blood:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
12	MAFK	chr7:12529636-12530073	Hela-S3	cervix:	n/a	n/a
13	MYC	chr7:12529672-12529865	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr7:12529760-12530060	H1-hESC	embryonic stem cell:	n/a	chr7:12529919-12529938
15	SMC3	chr7:12529712-12530133	Hela-S3	cervix:	n/a	chr7:12529923-12529937
16	RAD21	chr7:12529765-12530072	K562	blood:	n/a	chr7:12529919-12529938
17	CTCF	chr7:12529800-12529950	RPTEC	kidney:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
18	CTCF	chr7:12529820-12529970	GM12878	blood:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
19	RAD21	chr7:12529720-12530093	GM12878	blood:	n/a	chr7:12529919-12529938
20	RAD21	chr7:12529647-12530113	A549	lung:	n/a	chr7:12529919-12529938
21	RAD21	chr7:12529628-12530149	HCT-116	colon:	n/a	chr7:12529919-12529938
22	EP300	chr7:12529794-12530097	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFF	chr7:12529513-12529954	K562	blood:	n/a	n/a
24	CTCF	chr7:12529795-12530004	HepG2	liver:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
25	CTCF	chr7:12529760-12529910	A549	lung:	n/a	n/a
26	CTCF	chr7:12529780-12529930	NB4	blood:	n/a	n/a
27	RAD21	chr7:12529688-12530081	H1-hESC	embryonic stem cell:	n/a	chr7:12529919-12529938
28	RAD21	chr7:12529725-12530127	H1-hESC	embryonic stem cell:	n/a	chr7:12529919-12529938
29	RAD21	chr7:12529722-12530156	MCF-7	breast:	n/a	chr7:12529919-12529938
30	SMC3	chr7:12529104-12530487	SK-N-SH	brain:	n/a	chr7:12529923-12529937
31	CTCF	chr7:12529820-12529970	HCFaa	heart:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
32	CTCF	chr7:12529698-12530070	MCF-7	breast:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
33	CTCF	chr7:12529800-12529950	HCM	heart:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
34	CTCF	chr7:12529820-12529970	MCF-7	breast:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
35	FOXA1	chr7:12529781-12530080	HepG2	liver:	n/a	n/a
36	CTCF	chr7:12529820-12529970	GM12866	blood:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
37	FOXA1	chr7:12529815-12530065	T-47D	breast:	n/a	n/a
38	ARID3A	chr7:12529812-12530097	HepG2	liver:	n/a	n/a
39	FOXA1	chr7:12529787-12530134	T-47D	breast:	n/a	n/a
40	RAD21	chr7:12529709-12530126	Hela-S3	cervix:	n/a	chr7:12529919-12529938
41	MAFK	chr7:12529572-12529855	HepG2	liver:	n/a	n/a
42	SMC3	chr7:12529779-12530111	HepG2	liver:	n/a	chr7:12529923-12529937
43	FOXA1	chr7:12529805-12530115	HepG2	liver:	n/a	n/a
44	CTCF	chr7:12529695-12530108	A549	lung:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
45	CTCF	chr7:12529820-12529970	HAc	cerebellar:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
46	RAD21	chr7:12529727-12530080	SK-N-SH_RA	brain:	n/a	chr7:12529919-12529938
47	RAD21	chr7:12529657-12530192	HCT-116	colon:	n/a	chr7:12529919-12529938
48	CTCF	chr7:12529802-12530091	Medullo	brain:	n/a	chr7:12529922-12529938 chr7:12529916-12529937 chr7:12529921-12529939
49	JUND	chr7:12529722-12530224	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr7:12529668-12530169	MCF-7	breast:	n/a	chr7:12529919-12529938

No.	Distal block	Cell Line	Cell type
1	chr7:12497991..12498705-chr7:12529442..12530188,2	MCF-7	breast:
2	chr7:12520796..12522779-chr7:12527850..12529893,2	K562	blood:
3	chr7:12473597..12474340-chr7:12529520..12530546,3	MCF-7	breast:
4	chr7:12528914..12532541-chr7:12534824..12536655,4	K562	blood:
5	chr7:12497870..12498820-chr7:12528972..12530631,10	MCF-7	breast:
6	chr7:12497831..12498808-chr7:12529325..12530426,5	K562	blood:

Variant related genes	Relation type
TAS2R2P	TF binding region
ENSG00000226690	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10046485	0.90[ASN][1000 genomes]
rs10046487	0.90[ASN][1000 genomes]
rs10046491	0.91[ASN][1000 genomes]
rs10215269	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215656	0.91[ASN][1000 genomes]
rs10249671	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10488155	0.91[ASN][1000 genomes]
rs11977668	0.91[ASN][1000 genomes]
rs11981273	0.91[ASN][1000 genomes]
rs1440014	0.82[AFR][1000 genomes]
rs1440017	0.91[ASN][1000 genomes]
rs16877494	0.96[ASN][1000 genomes]
rs28551764	0.91[ASN][1000 genomes]
rs34965005	0.91[ASN][1000 genomes]
rs3735183	0.90[ASN][1000 genomes]
rs4719312	0.91[ASN][1000 genomes]
rs4721099	0.84[ASN][1000 genomes]
rs4721104	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57076782	0.91[ASN][1000 genomes]
rs57347805	0.84[ASN][1000 genomes]
rs57835825	0.91[ASN][1000 genomes]
rs58280274	0.84[ASN][1000 genomes]
rs59060587	0.91[ASN][1000 genomes]
rs59301534	0.91[ASN][1000 genomes]
rs60043259	0.91[ASN][1000 genomes]
rs61112361	0.90[ASN][1000 genomes]
rs66889911	0.82[AFR][1000 genomes]
rs6954423	0.91[ASN][1000 genomes]
rs6963925	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975302	0.91[ASN][1000 genomes]
rs6975517	0.91[ASN][1000 genomes]
rs6976074	0.91[ASN][1000 genomes]
rs73056737	0.91[ASN][1000 genomes]
rs73056743	0.91[ASN][1000 genomes]
rs73056757	0.91[ASN][1000 genomes]
rs734083	0.91[ASN][1000 genomes]
rs758282	0.91[ASN][1000 genomes]
rs7785791	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7794551	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7795767	0.91[ASN][1000 genomes]
rs847914	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv464377	chr7:12512802-12564128	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv606228	chr7:12512802-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv8048	chr7:12514460-12564736	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3692921	chr7:12515906-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464378	chr7:12516170-12562500	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv606229	chr7:12516170-12562500	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv519965	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv470055	chr7:12516170-12564128	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv606230	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv818482	chr7:12516170-12564128	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1028361	chr7:12517477-12548420	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1027185	chr7:12517477-12549015	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1022047	chr7:12517477-12552147	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv1027708	chr7:12517477-12558257	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv2761074	chr7:12517477-12566200	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv887640	chr7:12519212-12543794	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12528400-12530800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:12528600-12530200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:12528600-12530400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:12528800-12531000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:12529200-12530400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:12529400-12530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:12529600-12536600	Weak transcription	K562	blood

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