Variant report

Variant	rs3738570
Chromosome Location	chr1:56977819-56977820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56970988..56973563-chr1:56974719..56979116,4	K562	blood:
2	chr1:56975566..56978335-chr1:56981711..56983433,2	MCF-7	breast:
3	chr1:56973352..56978913-chr1:56979369..56985140,11	K562	blood:

Variant related genes	Relation type
ENSG00000162407	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10443239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493211	1.00[JPT][hapmap]
rs10789026	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10888978	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206831	1.00[JPT][hapmap]
rs11206832	1.00[JPT][hapmap]
rs11206834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206835	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11206838	1.00[JPT][hapmap]
rs11576602	1.00[JPT][hapmap]
rs11582172	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12134109	1.00[JPT][hapmap]
rs12137700	1.00[AFR][1000 genomes]
rs12402226	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12406517	1.00[JPT][hapmap]
rs1572057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404717	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927762	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528118	0.90[GIH][hapmap];1.00[JPT][hapmap]
rs7551402	1.00[JPT][hapmap]
rs8016	1.00[JPT][hapmap]
rs869934	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56967400-56978400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:56969000-56979200	Genic enhancers	Lung	lung
6	chr1:56970800-56978000	Genic enhancers	Fetal Intestine Small	intestine
7	chr1:56970800-56978200	Enhancers	Right Atrium	heart
8	chr1:56971000-56978000	Strong transcription	Thymus	Thymus
9	chr1:56971000-56979200	Genic enhancers	Left Ventricle	heart
10	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
11	chr1:56971600-56978200	Genic enhancers	Right Ventricle	heart
12	chr1:56971600-56978400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:56971600-56979200	Genic enhancers	Adipose Nuclei	Adipose
14	chr1:56972400-56990800	Strong transcription	HSMM	muscle
15	chr1:56972600-56981800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:56973400-56978600	Weak transcription	HUVEC	blood vessel
17	chr1:56974200-56978000	Genic enhancers	Brain Anterior Caudate	brain
18	chr1:56974600-56982400	Strong transcription	Osteobl	bone
19	chr1:56975000-56980000	Weak transcription	Hela-S3	cervix
20	chr1:56975000-56981800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:56975000-56981800	Weak transcription	NHEK	skin
22	chr1:56975000-56982000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:56975200-56978000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:56975400-56978000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:56975600-56978000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:56975600-56978200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:56975600-56978400	Genic enhancers	H1 Cell Line	embryonic stem cell
28	chr1:56975800-56978000	Genic enhancers	Gastric	stomach
29	chr1:56975800-56978200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:56975800-56978200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:56975800-56978200	Genic enhancers	Esophagus	oesophagus
32	chr1:56975800-56979200	Strong transcription	Aorta	Aorta
33	chr1:56976000-56978200	Genic enhancers	Brain Hippocampus Middle	brain
34	chr1:56976000-56978200	Genic enhancers	Ovary	ovary
35	chr1:56976000-56978200	Genic enhancers	Spleen	Spleen
36	chr1:56976000-56982600	Genic enhancers	Liver	Liver
37	chr1:56976200-56978000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:56976200-56978000	Strong transcription	Dnd41	blood
39	chr1:56976200-56982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:56976400-56978000	Genic enhancers	Brain Angular Gyrus	brain
41	chr1:56976400-56978000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:56976400-56978200	Strong transcription	Colonic Mucosa	Colon
43	chr1:56976400-56979200	Genic enhancers	HepG2	liver
44	chr1:56976400-56981400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:56976400-56982200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
47	chr1:56976600-56978000	Genic enhancers	Brain Substantia Nigra	brain
48	chr1:56976800-56978000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:56976800-56978000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:56976800-56978000	Strong transcription	Rectal Smooth Muscle	rectum

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