Variant report

Variant	rs3737890
Chromosome Location	chr1:62905425-62905426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62903692..62905802-chr1:63153946..63155842,2	K562	blood:
2	chr1:62903198..62905557-chr1:63182808..63185122,2	K562	blood:
3	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:

Variant related genes	Relation type
ENSG00000116641	Chromatin interaction
ENSG00000235545	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10493323	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10493325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168050	1.00[CHB][hapmap]
rs1168121	1.00[EUR][1000 genomes]
rs12023489	1.00[JPT][hapmap]
rs12062275	1.00[CHB][hapmap]
rs12563308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs12563863	1.00[EUR][1000 genomes]
rs12565895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs12566265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1408480	1.00[EUR][1000 genomes]
rs17123615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123688	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17123721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs17123725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs17123740	1.00[EUR][1000 genomes]
rs17123743	1.00[EUR][1000 genomes]
rs2016736	1.00[EUR][1000 genomes]
rs34898550	1.00[EUR][1000 genomes]
rs36157139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55709519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56094630	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56193814	1.00[EUR][1000 genomes]
rs56792530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57022388	1.00[EUR][1000 genomes]
rs59505425	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59662235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59816054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60339595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs610248	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61308091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61501887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076691	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076695	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076907	1.00[EUR][1000 genomes]
rs74076909	1.00[EUR][1000 genomes]
rs74078610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74078643	1.00[EUR][1000 genomes]
rs74078661	1.00[EUR][1000 genomes]
rs9436224	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62901000-62905600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:62901000-62905800	Active TSS	NHLF	lung
3	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
4	chr1:62901400-62905800	Active TSS	K562	blood
5	chr1:62901400-62906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:62903400-62905800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:62903600-62914600	Weak transcription	Spleen	Spleen
8	chr1:62903800-62906400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr1:62904000-62915200	Weak transcription	Lung	lung
10	chr1:62904200-62905600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:62904200-62905800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:62904200-62906000	Active TSS	HepG2	liver
13	chr1:62904200-62906200	Weak transcription	Ovary	ovary
14	chr1:62904200-62906200	Weak transcription	Small Intestine	intestine
15	chr1:62904200-62906400	Weak transcription	Placenta	Placenta
16	chr1:62904200-62906600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:62904200-62907400	Weak transcription	Left Ventricle	heart
18	chr1:62904200-62908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:62904200-62909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:62904200-62909600	Weak transcription	Aorta	Aorta
21	chr1:62904200-62909600	Weak transcription	Esophagus	oesophagus
22	chr1:62904200-62911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:62904200-62911400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:62904200-62911400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:62904200-62913000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:62904200-62914200	Weak transcription	Colonic Mucosa	Colon
27	chr1:62904200-62914600	Weak transcription	Gastric	stomach
28	chr1:62904200-62915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
30	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
31	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:62904400-62905800	Enhancers	Fetal Brain Male	brain
33	chr1:62904400-62906600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr1:62904400-62907000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:62904400-62907000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:62904400-62907200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:62904400-62907200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:62904400-62907400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:62904400-62907400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:62904400-62907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:62904400-62914600	Weak transcription	Psoas Muscle	Psoas
42	chr1:62904600-62906400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:62904600-62907200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:62904600-62908400	Weak transcription	Right Ventricle	heart
45	chr1:62904600-62911800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:62904600-62913000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
48	chr1:62904800-62905600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:62904800-62905600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:62904800-62905600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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