Variant report

Variant	rs7954050
Chromosome Location	chr12:67678117-67678118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67677931..67680021-chr12:67680762..67682692,2	MCF-7	breast:
2	chr12:67673864..67678122-chr12:67685372..67688266,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10878598	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11176668	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11176669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176670	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176672	0.89[AFR][1000 genomes]
rs11176673	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11176686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11176689	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176693	0.83[AFR][1000 genomes]
rs11176703	0.95[ASN][1000 genomes]
rs11176704	0.95[ASN][1000 genomes]
rs11176705	0.95[ASN][1000 genomes]
rs11176707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11176711	0.91[ASN][1000 genomes]
rs12299097	0.89[AFR][1000 genomes]
rs12302564	0.95[ASN][1000 genomes]
rs12305377	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12306657	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311150	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12313282	0.91[AFR][1000 genomes]
rs12314146	0.95[ASN][1000 genomes]
rs12321396	0.91[AFR][1000 genomes]
rs3087577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55646172	1.00[ASN][1000 genomes]
rs55809526	1.00[ASN][1000 genomes]
rs55809587	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906716	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978724	1.00[ASN][1000 genomes]
rs56224819	1.00[ASN][1000 genomes]
rs56728872	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58114937	1.00[ASN][1000 genomes]
rs60009568	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60072946	1.00[ASN][1000 genomes]
rs60077199	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60104343	0.95[ASN][1000 genomes]
rs60971316	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61195985	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61219299	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61281993	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137520	0.93[ASN][1000 genomes]
rs7296364	1.00[ASN][1000 genomes]
rs7298244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7307353	1.00[ASN][1000 genomes]
rs7312708	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976686	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7978989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
4	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
7	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
11	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:67667600-67682600	Weak transcription	Lung	lung
13	chr12:67668400-67678400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:67668400-67688200	Weak transcription	HUVEC	blood vessel
15	chr12:67668800-67678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:67669400-67683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:67670000-67684200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:67670600-67678200	Weak transcription	HSMM	muscle
23	chr12:67670600-67684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:67670800-67678400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:67670800-67682000	Weak transcription	Right Ventricle	heart
26	chr12:67670800-67688400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:67671000-67688800	Weak transcription	NHEK	skin
28	chr12:67671000-67689400	Weak transcription	NHLF	lung
29	chr12:67671200-67688200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:67671400-67678400	Weak transcription	HSMMtube	muscle
31	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:67671600-67678200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:67671600-67678200	Weak transcription	Fetal Brain Female	brain
34	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
35	chr12:67671800-67680800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:67672200-67678200	Weak transcription	GM12878-XiMat	blood
37	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
38	chr12:67672400-67678400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:67672400-67684600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
41	chr12:67672600-67684600	Weak transcription	Gastric	stomach
42	chr12:67672600-67684600	Weak transcription	Right Atrium	heart
43	chr12:67673000-67680600	Weak transcription	K562	blood
44	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
45	chr12:67674000-67678400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:67674200-67684600	Weak transcription	Brain Anterior Caudate	brain
47	chr12:67674200-67688800	Weak transcription	Brain Angular Gyrus	brain
48	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:67674400-67684600	Weak transcription	Fetal Lung	lung
50	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain

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