Variant report

Variant	rs62438863
Chromosome Location	chr6:45040592-45040593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10456121	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10456122	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10456542	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10456543	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10456546	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10456547	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10456548	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10456549	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10948201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10948204	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948205	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948211	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948212	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948213	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948214	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948216	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10948217	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10948219	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10948220	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10948221	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11961316	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11965706	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11967224	0.82[EUR][1000 genomes]
rs11967630	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11970412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11970496	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12154152	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12190367	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12191262	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12191521	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12191566	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12192890	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12193030	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12193682	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12193720	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12193812	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12194924	0.85[EUR][1000 genomes]
rs12196188	0.85[EUR][1000 genomes]
rs12196217	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12198376	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12198982	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12201005	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12202232	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12202434	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12203558	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12205379	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12205860	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205905	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12206561	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12206568	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12208605	0.84[EUR][1000 genomes]
rs12209161	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12211519	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12212745	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12213735	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12214885	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1324536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1329709	0.84[EUR][1000 genomes]
rs1329711	0.84[EUR][1000 genomes]
rs17209636	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17209678	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17288250	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17423748	0.81[EUR][1000 genomes]
rs1853651	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2038765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2093900	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2396379	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28583363	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34455867	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4267941	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4400216	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4443508	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4479922	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56283067	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56337964	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56357385	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56397204	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400267	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62400268	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62400269	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62400289	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62400290	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62400293	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62436411	0.82[EUR][1000 genomes]
rs62436436	0.82[EUR][1000 genomes]
rs62436760	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62436778	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62436779	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62436780	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62436781	0.91[AMR][1000 genomes]
rs62436782	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62438864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62438867	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62438877	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6908606	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6909047	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6919813	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6919873	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6919998	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6920046	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6924185	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6927213	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72857080	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858517	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72869118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72869127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72870950	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2762589	chr6:44982992-45044580	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45037000-45042400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:45037800-45043000	Weak transcription	Fetal Heart	heart
3	chr6:45038800-45041000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:45039200-45042600	Enhancers	Dnd41	blood
5	chr6:45039200-45043000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:45039400-45040600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:45039400-45040800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:45039600-45040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:45039600-45040800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:45039600-45041000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:45039600-45042400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:45039800-45041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:45039800-45044200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:45039800-45044600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:45040000-45040600	Enhancers	HUVEC	blood vessel
16	chr6:45040000-45040800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:45040000-45041400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:45040200-45041000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:45040400-45040600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:45040400-45040600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:45040400-45040800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:45040400-45041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:45040400-45041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:45040400-45041200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links