Variant report

Variant	rs12670264
Chromosome Location	chr7:116549862-116549863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116549824..116552913-chr7:116592405..116594166,3	K562	blood:
2	7:115890993-115892266..7:116547624-116551247	GM12878	blood:
3	7:116547624-116551247..7:116754962-116765597	GM12878	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10487354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10487355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10487356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533755	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537847	0.91[YRI][hapmap]
rs12665952	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12669383	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12670056	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];0.98[ASN][1000 genomes]
rs12671827	0.99[EUR][1000 genomes]
rs12671828	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673979	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674017	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706108	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706109	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706110	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706112	0.95[EUR][1000 genomes]
rs12706115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706120	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706122	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706123	0.81[EUR][1000 genomes]
rs13222845	0.99[EUR][1000 genomes]
rs13224082	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13228847	0.94[EUR][1000 genomes]
rs13239000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237718	0.91[YRI][hapmap]
rs2237720	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299441	0.92[EUR][1000 genomes]
rs2301649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3173936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807999	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs4808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808129	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9791492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
7	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
8	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
10	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
11	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
13	chr7:116526200-116550000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
15	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
16	chr7:116526800-116554600	Weak transcription	Gastric	stomach
17	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
18	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:116530200-116550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:116531400-116550600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:116532000-116551200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:116532000-116559600	Strong transcription	HSMM	muscle
23	chr7:116534400-116551800	Weak transcription	Fetal Stomach	stomach
24	chr7:116535600-116552000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:116537600-116551200	Weak transcription	Brain Germinal Matrix	brain
26	chr7:116537800-116551400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:116538400-116551200	Weak transcription	NHEK	skin
30	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
31	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:116540200-116551200	Weak transcription	Hela-S3	cervix
34	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
35	chr7:116540600-116551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:116541200-116551000	Weak transcription	Pancreas	Pancrea
37	chr7:116541400-116550000	Weak transcription	Fetal Brain Female	brain
38	chr7:116541400-116550200	Weak transcription	Fetal Kidney	kidney
39	chr7:116541400-116550600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:116541400-116551600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:116541600-116551000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:116542600-116551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:116542800-116551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:116543000-116551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
46	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:116543400-116553400	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links