Variant report

Variant	rs7296364
Chromosome Location	chr12:67679824-67679825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67674548..67676548-chr12:67679088..67681255,2	MCF-7	breast:
2	chr12:67677931..67680021-chr12:67680762..67682692,2	MCF-7	breast:
3	chr12:67674561..67677422-chr12:67679504..67681796,2	MCF-7	breast:
4	chr12:67678774..67680822-chr12:67683989..67686617,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10878598	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176668	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11176669	1.00[ASN][1000 genomes]
rs11176670	1.00[ASN][1000 genomes]
rs11176673	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176686	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176689	0.95[ASN][1000 genomes]
rs11176703	0.95[ASN][1000 genomes]
rs11176704	0.95[ASN][1000 genomes]
rs11176705	0.95[ASN][1000 genomes]
rs11176707	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176711	0.91[ASN][1000 genomes]
rs12302564	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12305377	0.95[ASN][1000 genomes]
rs12306657	0.95[ASN][1000 genomes]
rs12311150	0.91[ASN][1000 genomes]
rs12314146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087577	0.95[ASN][1000 genomes]
rs3736630	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646172	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809526	1.00[ASN][1000 genomes]
rs55809587	1.00[ASN][1000 genomes]
rs55906716	1.00[ASN][1000 genomes]
rs55978724	1.00[ASN][1000 genomes]
rs56224819	1.00[ASN][1000 genomes]
rs56728872	1.00[ASN][1000 genomes]
rs58114937	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60009568	0.95[ASN][1000 genomes]
rs60072946	1.00[ASN][1000 genomes]
rs60077199	0.95[ASN][1000 genomes]
rs60104343	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60971316	0.95[ASN][1000 genomes]
rs61195985	1.00[ASN][1000 genomes]
rs61219299	0.95[ASN][1000 genomes]
rs61281993	0.95[ASN][1000 genomes]
rs7137520	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307353	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312708	0.91[ASN][1000 genomes]
rs7954050	1.00[ASN][1000 genomes]
rs7976686	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978989	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];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:121 , 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	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
6	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
10	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:67667600-67682600	Weak transcription	Lung	lung
12	chr12:67668400-67688200	Weak transcription	HUVEC	blood vessel
13	chr12:67669400-67683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:67670000-67684200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:67670600-67684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:67670800-67682000	Weak transcription	Right Ventricle	heart
21	chr12:67670800-67688400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:67671000-67688800	Weak transcription	NHEK	skin
23	chr12:67671000-67689400	Weak transcription	NHLF	lung
24	chr12:67671200-67688200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
27	chr12:67671800-67680800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
29	chr12:67672400-67684600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
31	chr12:67672600-67684600	Weak transcription	Gastric	stomach
32	chr12:67672600-67684600	Weak transcription	Right Atrium	heart
33	chr12:67673000-67680600	Weak transcription	K562	blood
34	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
35	chr12:67674200-67684600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:67674200-67688800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:67674400-67684600	Weak transcription	Fetal Lung	lung
39	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:67674600-67689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:67674800-67680600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:67674800-67682200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
45	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
46	chr12:67675200-67680600	Weak transcription	Ovary	ovary
47	chr12:67675200-67681400	Strong transcription	Dnd41	blood
48	chr12:67675200-67682000	Weak transcription	Pancreas	Pancrea
49	chr12:67675200-67682400	Weak transcription	Left Ventricle	heart
50	chr12:67675400-67685400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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