Variant report

Variant	rs2634530
Chromosome Location	chr8:59516156-59516157
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:59516141-59516213	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59513092..59517407-chr8:59519565..59524210,4	K562	blood:

Variant related genes	Relation type
NSMAF	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10099912	0.81[JPT][hapmap]
rs10111180	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs12334684	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12674724	0.87[ASN][1000 genomes]
rs16923594	0.84[CHB][hapmap];0.87[ASN][1000 genomes]
rs2255834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279460	0.90[JPT][hapmap]
rs2279462	0.91[JPT][hapmap]
rs2326129	0.90[ASN][1000 genomes]
rs2634488	0.95[ASN][1000 genomes]
rs2634531	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2634534	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2680897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2680899	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2680901	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28819228	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2946578	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4579515	0.80[JPT][hapmap]
rs4737504	0.93[CEU][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6985007	0.83[EUR][1000 genomes]
rs6985643	0.81[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs6987187	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6991020	0.85[ASN][1000 genomes]
rs7820921	0.89[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7836960	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7844231	0.91[JPT][hapmap]
rs901954	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59483800-59528000	Strong transcription	Dnd41	blood
3	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
4	chr8:59500200-59524600	Weak transcription	HepG2	liver
5	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
6	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
8	chr8:59506000-59516800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:59507600-59521800	Weak transcription	Spleen	Spleen
11	chr8:59507600-59524800	Weak transcription	Fetal Kidney	kidney
12	chr8:59507600-59525200	Weak transcription	Ovary	ovary
13	chr8:59507600-59545400	Weak transcription	Gastric	stomach
14	chr8:59508000-59521000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:59508000-59523400	Weak transcription	Pancreas	Pancrea
16	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
19	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
20	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
21	chr8:59508800-59521000	Weak transcription	Fetal Brain Male	brain
22	chr8:59509000-59524000	Strong transcription	Fetal Thymus	thymus
23	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:59509200-59516800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:59509600-59516200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:59509600-59523400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:59509800-59516200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:59509800-59520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:59510000-59519800	Weak transcription	Fetal Brain Female	brain
33	chr8:59510000-59523600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:59510200-59516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:59510200-59517400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:59510200-59518800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:59510200-59519800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:59510200-59523000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:59510200-59524600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:59510200-59526800	Weak transcription	Brain Angular Gyrus	brain
41	chr8:59510200-59527200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:59510200-59542400	Weak transcription	Lung	lung
43	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
46	chr8:59510800-59520000	Weak transcription	HMEC	breast
47	chr8:59511600-59516200	Strong transcription	K562	blood
48	chr8:59512000-59519200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:59512000-59542200	Weak transcription	Right Ventricle	heart
50	chr8:59512200-59542200	Weak transcription	NH-A	brain

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