Variant report

Variant	rs340637
Chromosome Location	chr4:87929192-87929193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
2	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
3	chr4:87928676..87930653-chr4:88070538..88073339,2	K562	blood:
4	chr14:35872357..35874044-chr4:87927211..87929336,2	MCF-7	breast:
5	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
6	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10015639	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10032244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516788	0.90[CEU][hapmap]
rs11729622	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13126334	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13127250	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17012234	0.90[CEU][hapmap]
rs17701999	0.90[CEU][hapmap]
rs17752307	0.91[CEU][hapmap]
rs2007132	0.88[ASN][1000 genomes]
rs2053769	0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2053770	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs28495007	0.86[ASN][1000 genomes]
rs340626	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs340630	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs340633	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340636	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs340638	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340639	0.86[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340641	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs340642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs340643	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs340648	0.98[ASN][1000 genomes]
rs340650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs340651	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs375795	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs388401	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4386567	0.88[ASN][1000 genomes]
rs443459	0.89[ASN][1000 genomes]
rs4693796	0.83[ASN][1000 genomes]
rs4693798	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4693800	0.97[ASN][1000 genomes]
rs58633957	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58822039	0.81[AFR][1000 genomes]
rs6531941	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6531946	0.84[ASN][1000 genomes]
rs6531948	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6811587	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819155	0.90[CEU][hapmap]
rs6839933	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840258	0.90[CEU][hapmap]
rs6854749	0.91[CEU][hapmap]
rs7657530	0.82[CHB][hapmap]
rs7665282	0.91[CEU][hapmap]
rs767315	0.85[CEU][hapmap]
rs7682652	0.91[CEU][hapmap]
rs867196	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9715807	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87926600-87929400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:87926800-87929400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87926800-87929400	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr4:87926800-87929800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:87926800-87930000	Active TSS	Psoas Muscle	Psoas
6	chr4:87926800-87930200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:87927000-87929200	Active TSS	HSMM	muscle
8	chr4:87927000-87929600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:87927000-87929600	Active TSS	Aorta	Aorta
10	chr4:87927000-87930200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:87927000-87930200	Active TSS	Thymus	Thymus
12	chr4:87927000-87930400	Active TSS	Colonic Mucosa	Colon
13	chr4:87927000-87930400	Active TSS	Right Ventricle	heart
14	chr4:87927200-87929200	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr4:87927200-87929200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr4:87927200-87929200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:87927200-87929200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:87927200-87929200	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:87927200-87929200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:87927200-87929200	Active TSS	Fetal Lung	lung
21	chr4:87927200-87929200	Active TSS	Gastric	stomach
22	chr4:87927200-87929200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:87927200-87929200	Active TSS	Spleen	Spleen
24	chr4:87927200-87929400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr4:87927200-87929400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:87927200-87929400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:87927200-87929400	Active TSS	Esophagus	oesophagus
28	chr4:87927200-87929400	Active TSS	Fetal Muscle Trunk	muscle
29	chr4:87927200-87929400	Active TSS	Lung	lung
30	chr4:87927200-87929400	Active TSS	Pancreas	Pancrea
31	chr4:87927200-87929600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:87927200-87929600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:87927200-87929600	Active TSS	Fetal Stomach	stomach
34	chr4:87927200-87929800	Active TSS	NHDF-Ad	bronchial
35	chr4:87927200-87930000	Active TSS	Rectal Smooth Muscle	rectum
36	chr4:87927200-87930200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:87927200-87930200	Active TSS	Colon Smooth Muscle	Colon
38	chr4:87927200-87930200	Active TSS	Stomach Smooth Muscle	stomach
39	chr4:87927200-87930400	Active TSS	Ovary	ovary
40	chr4:87927400-87929200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:87927400-87929200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:87927400-87929200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:87927400-87929200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:87927400-87929200	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr4:87927400-87929200	Active TSS	Brain Angular Gyrus	brain
46	chr4:87927400-87929200	Active TSS	Brain Hippocampus Middle	brain
47	chr4:87927400-87929200	Active TSS	Brain Substantia Nigra	brain
48	chr4:87927400-87929200	Active TSS	Dnd41	blood
49	chr4:87927400-87929200	Active TSS	HSMMtube	muscle
50	chr4:87927400-87929200	Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links