Variant report

Variant	rs7958680
Chromosome Location	chr12:117449180-117449181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117441591..117444664-chr12:117447106..117450120,5	MCF-7	breast:
2	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
3	chr12:117438803..117441545-chr12:117447187..117449859,2	K562	blood:
4	chr12:117447732..117449605-chr12:117449689..117452738,3	K562	blood:
5	chr12:117447389..117449402-chr12:117456865..117458856,2	MCF-7	breast:
6	chr12:117442427..117445023-chr12:117448481..117451118,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10735100	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735101	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774895	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774898	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850730	0.85[EUR][1000 genomes]
rs10850734	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850742	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11068276	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068292	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2291916	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393113	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766816	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766823	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767477	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767486	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6490103	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7133090	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7486428	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962875	0.95[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
5	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
7	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
8	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117434200-117449800	Weak transcription	NHEK	skin
10	chr12:117435600-117449800	Weak transcription	Stomach Mucosa	stomach
11	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:117441200-117449800	Weak transcription	Right Atrium	heart
14	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
15	chr12:117442400-117449600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:117443200-117449600	Weak transcription	Fetal Brain Male	brain
17	chr12:117443400-117449200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:117443400-117449400	Weak transcription	NHDF-Ad	bronchial
19	chr12:117443400-117449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:117443600-117449200	Weak transcription	NH-A	brain
21	chr12:117443800-117452000	Weak transcription	Fetal Heart	heart
22	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
23	chr12:117444000-117450800	Weak transcription	Fetal Kidney	kidney
24	chr12:117444000-117462800	Weak transcription	K562	blood
25	chr12:117444400-117449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:117444400-117451800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
28	chr12:117444600-117449800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:117444600-117451800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:117444600-117452200	Weak transcription	Esophagus	oesophagus
31	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
32	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
34	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:117445600-117452200	Weak transcription	HepG2	liver
37	chr12:117445800-117449600	Weak transcription	Adipose Nuclei	Adipose
38	chr12:117445800-117449800	Weak transcription	Primary B cells from cord blood	blood
39	chr12:117445800-117452200	Weak transcription	Dnd41	blood
40	chr12:117445800-117452600	Weak transcription	Gastric	stomach
41	chr12:117446000-117449800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:117446000-117452400	Weak transcription	HSMM	muscle
43	chr12:117446200-117450800	Weak transcription	HUVEC	blood vessel
44	chr12:117446600-117449600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:117446600-117449800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:117447000-117450000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:117447000-117450200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:117447000-117450400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:117447000-117450400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:117447000-117450800	Strong transcription	Fetal Stomach	stomach

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