Variant report

Variant	rs7300507
Chromosome Location	chr12:120498499-120498500
allele	A/T
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	FOS	chr12:120497794-120498584	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:120497863-120498578	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:120497836-120498518	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:120497909-120498544	Hela-S3	cervix:	n/a	chr12:120498340-120498349 chr12:120498227-120498238
5	FOS	chr12:120497773-120498606	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr12:120497503-120498579	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr12:120497826-120498510	MCF10A-Er-Src	breast:	n/a	chr12:120498340-120498349 chr12:120498227-120498238
8	STAT3	chr12:120497706-120498509	MCF10A-Er-Src	breast:	n/a	chr12:120498340-120498349 chr12:120498227-120498238
9	EP300	chr12:120497947-120498522	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr12:120497871-120498606	MCF10A-Er-Src	breast:	n/a	chr12:120498340-120498349 chr12:120498227-120498238
11	CEBPB	chr12:120497905-120498509	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr12:120497804-120498570	MCF10A-Er-Src	breast:	n/a	chr12:120498340-120498349 chr12:120498227-120498238

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120497978..120500428-chr12:120503255..120504973,2	K562	blood:

Variant related genes	Relation type
CCDC64	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10161261	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849733	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10849734	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064985	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064990	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064997	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065005	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065010	0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065019	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11065024	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12298267	1.00[CEU][hapmap]
rs12307887	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312294	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313412	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321330	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425507	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13377680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59709506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748076	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7139151	0.82[CEU][hapmap]
rs7294975	0.82[CEU][hapmap]
rs7307905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73410877	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953284	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7957793	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970773	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974285	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120480000-120499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:120480000-120499200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120486400-120498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:120486600-120498600	Weak transcription	Gastric	stomach
5	chr12:120486600-120499200	Weak transcription	Thymus	Thymus
6	chr12:120486800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:120487000-120499400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:120487000-120502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:120487000-120502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:120487200-120499400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:120487200-120499800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:120487800-120512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:120493000-120503200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:120493800-120501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120493800-120523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:120494600-120502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:120494800-120498800	Weak transcription	Liver	Liver
18	chr12:120494800-120499400	Weak transcription	HepG2	liver
19	chr12:120494800-120502400	Weak transcription	Esophagus	oesophagus
20	chr12:120494800-120517800	Weak transcription	Lung	lung
21	chr12:120497400-120499800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:120497600-120502800	Enhancers	Hela-S3	cervix
23	chr12:120497600-120507400	Enhancers	Stomach Mucosa	stomach
24	chr12:120497600-120509400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:120497800-120498600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:120497800-120498800	Enhancers	NHEK	skin
27	chr12:120497800-120499600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:120498200-120499200	Weak transcription	HMEC	breast
29	chr12:120498200-120507400	Strong transcription	Primary T cells from cord blood	blood
30	chr12:120498400-120499200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:120498400-120500000	Weak transcription	Fetal Thymus	thymus
32	chr12:120498400-120511600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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