Variant report

Variant	rs7958263
Chromosome Location	chr12:105412695-105412696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105380127..105381694-chr12:105412344..105413961,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10778361	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778363	0.97[ASN][1000 genomes]
rs10861298	0.82[CEU][hapmap]
rs10861299	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861301	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861302	0.86[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs10861303	0.87[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10861304	0.96[ASN][1000 genomes]
rs10861308	0.97[ASN][1000 genomes]
rs10861309	0.97[ASN][1000 genomes]
rs10861310	0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10861311	0.97[ASN][1000 genomes]
rs10861313	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11112263	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112284	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112286	0.97[ASN][1000 genomes]
rs11112287	0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11112296	0.98[ASN][1000 genomes]
rs11112297	0.97[ASN][1000 genomes]
rs11112299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112306	0.99[ASN][1000 genomes]
rs1129593	0.94[CEU][hapmap]
rs12581510	0.97[ASN][1000 genomes]
rs12581542	0.96[ASN][1000 genomes]
rs16890	0.99[ASN][1000 genomes]
rs17036612	0.97[ASN][1000 genomes]
rs4281549	0.97[ASN][1000 genomes]
rs4318051	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4331189	0.98[ASN][1000 genomes]
rs4473015	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964119	0.83[YRI][hapmap]
rs6539176	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7134342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297572	0.97[ASN][1000 genomes]
rs7302931	0.98[ASN][1000 genomes]
rs7304326	0.86[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7308025	0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7308266	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308568	0.82[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7308574	0.97[ASN][1000 genomes]
rs7309375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311995	0.97[ASN][1000 genomes]
rs73387268	0.97[ASN][1000 genomes]
rs7970173	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.96[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
2	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:105393400-105421200	Weak transcription	NHLF	lung
4	chr12:105393800-105412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:105393800-105414400	Weak transcription	Esophagus	oesophagus
6	chr12:105393800-105414600	Weak transcription	Colonic Mucosa	Colon
7	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:105394000-105414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:105395200-105414400	Weak transcription	Fetal Kidney	kidney
14	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
15	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:105399000-105414200	Weak transcription	Small Intestine	intestine
17	chr12:105399200-105414200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:105401400-105415200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:105406200-105413200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:105406400-105413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:105407000-105412800	Strong transcription	Adipose Nuclei	Adipose
22	chr12:105407200-105413800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:105407200-105419800	Weak transcription	Fetal Brain Female	brain
24	chr12:105407400-105418400	Weak transcription	Right Ventricle	heart
25	chr12:105407600-105413600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:105407800-105413800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:105407800-105414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:105407800-105414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:105407800-105415600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:105407800-105415800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:105407800-105416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:105407800-105419400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:105407800-105419400	Weak transcription	Fetal Lung	lung
34	chr12:105407800-105425000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:105407800-105426000	Weak transcription	Fetal Intestine Small	intestine
36	chr12:105407800-105430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:105408000-105419800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
40	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:105408800-105412800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:105408800-105414600	Strong transcription	HSMM	muscle
43	chr12:105408800-105418800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:105409200-105413000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:105409200-105414000	Weak transcription	NHDF-Ad	bronchial
46	chr12:105409200-105414400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:105409200-105418000	Weak transcription	NH-A	brain
48	chr12:105409200-105425000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
50	chr12:105409400-105414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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