Variant report

Variant	rs7307353
Chromosome Location	chr12:67670530-67670531
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	chr12:67669758..67671716-chr12:67673656..67677648,4	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10878598	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176686	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176711	0.91[ASN][1000 genomes]
rs12302564	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087577	0.95[ASN][1000 genomes]
rs3736630	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646172	0.82[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	0.84[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	0.90[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];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296364	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298244	1.00[AFR][1000 genomes];1.00[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];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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

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	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
6	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
7	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
11	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
16	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:67665400-67671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:67665600-67672000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:67665600-67672000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:67666000-67671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:67666000-67671200	Weak transcription	Fetal Brain Female	brain
26	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
27	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:67666400-67670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:67666600-67670600	Weak transcription	Fetal Brain Male	brain
30	chr12:67666600-67671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:67666800-67676200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:67667000-67670600	Strong transcription	Fetal Thymus	thymus
33	chr12:67667000-67671400	Enhancers	Colon Smooth Muscle	Colon
34	chr12:67667200-67672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:67667400-67671400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:67667600-67670800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:67667600-67671800	Weak transcription	Fetal Intestine Small	intestine
38	chr12:67667600-67671800	Weak transcription	Pancreas	Pancrea
39	chr12:67667600-67682600	Weak transcription	Lung	lung
40	chr12:67667800-67670800	Genic enhancers	K562	blood
41	chr12:67667800-67673200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:67668200-67671200	Weak transcription	Hela-S3	cervix
43	chr12:67668400-67670800	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:67668400-67671000	Enhancers	NHEK	skin
45	chr12:67668400-67671000	Enhancers	NHLF	lung
46	chr12:67668400-67671200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:67668400-67671200	Weak transcription	Left Ventricle	heart
48	chr12:67668400-67671200	Weak transcription	Psoas Muscle	Psoas
49	chr12:67668400-67671200	Enhancers	HMEC	breast
50	chr12:67668400-67674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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