Variant report

Variant	rs9842283
Chromosome Location	chr3:56609469-56609470
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10212341	0.90[YRI][hapmap]
rs10222449	0.85[EUR][1000 genomes]
rs10222462	0.85[EUR][1000 genomes]
rs1045926	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10865998	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865999	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11130536	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11130538	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs11706624	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11715395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs11921326	0.82[AFR][1000 genomes]
rs12636392	0.85[EUR][1000 genomes]
rs12636773	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12715490	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13097030	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1352766	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1388251	0.85[EUR][1000 genomes]
rs1491166	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.86[YRI][hapmap];0.88[EUR][1000 genomes]
rs17056878	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs17216740	0.80[AFR][1000 genomes]
rs2004199	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2029464	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2029465	0.80[YRI][hapmap]
rs2035798	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2046823	0.85[GIH][hapmap]
rs2054987	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2054988	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2291499	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2291501	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2317133	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28407059	0.86[EUR][1000 genomes]
rs4093514	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4681746	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4681951	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4681963	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4974220	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974224	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6765870	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6784100	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6785479	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6790915	0.86[EUR][1000 genomes]
rs6798118	0.93[EUR][1000 genomes]
rs6799576	0.84[EUR][1000 genomes]
rs6802051	0.84[AFR][1000 genomes]
rs6805469	0.93[EUR][1000 genomes]
rs72877266	0.84[EUR][1000 genomes]
rs7612599	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7618024	0.90[CHB][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap]
rs7626378	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7629559	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7647272	0.85[EUR][1000 genomes]
rs9811046	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs9820759	1.00[ASW][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs9836539	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9840528	0.94[CEU][hapmap]
rs9845096	0.83[AFR][1000 genomes]
rs9846282	0.83[EUR][1000 genomes]
rs9858728	1.00[ASW][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9862490	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs9881005	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9881789	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9881961	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9985253	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9985254	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv822097	chr3:56607112-56620842	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv435762	chr3:56607518-56622066	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv19690	chr3:56607723-56621531	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv822099	chr3:56607804-56620842	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1827962	chr3:56607811-56617333	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1830828	chr3:56607811-56617333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1832534	chr3:56607811-56617333	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1831026	chr3:56607811-56620106	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1832365	chr3:56607811-56620106	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1826366	chr3:56607826-56620842	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1830577	chr3:56607826-56620842	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv963260	chr3:56608026-56620152	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1825009	chr3:56608033-56609469	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1831830	chr3:56608033-56609469	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1825630	chr3:56608033-56620106	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1827186	chr3:56608033-56620106	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1827416	chr3:56608033-56620106	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv528087	chr3:56608033-56628031	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1830059	chr3:56608467-56609469	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56592000-56615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:56592400-56615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:56592400-56639800	Weak transcription	Right Ventricle	heart
4	chr3:56592400-56644800	Weak transcription	Small Intestine	intestine
5	chr3:56592800-56610200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:56592800-56644600	Weak transcription	Fetal Heart	heart
7	chr3:56593000-56610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:56593200-56609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:56593200-56616400	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:56593600-56609800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:56594200-56610200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:56597400-56610000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:56598000-56609800	Strong transcription	Primary T cells from cord blood	blood
14	chr3:56598600-56609600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:56600200-56609600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:56600600-56640000	Weak transcription	NHLF	lung
17	chr3:56601800-56615800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:56602400-56616200	Weak transcription	Dnd41	blood
19	chr3:56603000-56631600	Weak transcription	Fetal Brain Male	brain
20	chr3:56603200-56616600	Weak transcription	GM12878-XiMat	blood
21	chr3:56603200-56650400	Weak transcription	K562	blood
22	chr3:56603400-56610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:56603600-56612200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:56603600-56615800	Weak transcription	Gastric	stomach
25	chr3:56603600-56640000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:56603800-56615600	Weak transcription	Brain Germinal Matrix	brain
27	chr3:56604200-56615600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:56604200-56627600	Weak transcription	Brain Angular Gyrus	brain
29	chr3:56604600-56615800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:56604600-56624600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:56604600-56625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:56604600-56625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:56604600-56627600	Weak transcription	HUVEC	blood vessel
34	chr3:56604800-56609600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:56605400-56610000	Strong transcription	HSMM	muscle
36	chr3:56605600-56639600	Weak transcription	Pancreas	Pancrea
37	chr3:56605800-56615400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:56605800-56639400	Weak transcription	Spleen	Spleen
39	chr3:56605800-56639600	Weak transcription	Esophagus	oesophagus
40	chr3:56606000-56611800	Weak transcription	Fetal Stomach	stomach
41	chr3:56606000-56615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:56606000-56615800	Weak transcription	Aorta	Aorta
43	chr3:56606000-56617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:56606000-56627600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:56606000-56627600	Weak transcription	Left Ventricle	heart
46	chr3:56606000-56629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:56606200-56650200	Weak transcription	Colonic Mucosa	Colon
48	chr3:56606600-56609600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:56606600-56616400	Weak transcription	Placenta	Placenta
50	chr3:56606600-56617000	Weak transcription	Rectal Mucosa Donor 31	rectum

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