Variant report

Variant	rs4557193
Chromosome Location	chr3:51062970-51062971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10212240	0.85[ASN][1000 genomes]
rs11130273	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130274	0.85[ASN][1000 genomes]
rs11715556	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11919932	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494165	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12630889	0.85[ASN][1000 genomes]
rs13060972	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28470684	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244699	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244700	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244701	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244703	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244704	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244705	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4263323	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4269109	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4286453	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4289378	0.85[ASN][1000 genomes]
rs4293735	0.85[ASN][1000 genomes]
rs4309762	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4309763	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4317135	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4328835	0.85[ASN][1000 genomes]
rs4353834	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4359843	0.85[ASN][1000 genomes]
rs4377512	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4390967	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4422345	0.85[ASN][1000 genomes]
rs4438692	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444745	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446244	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4464493	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4465974	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4478114	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4487270	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4488874	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4491946	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4505743	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4507294	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4511930	0.87[ASN][1000 genomes]
rs4511931	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4511933	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4530566	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4532165	0.85[ASN][1000 genomes]
rs4541436	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574329	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582086	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4586853	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4589968	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4596182	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613496	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4615113	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4639007	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927957	0.82[ASN][1000 genomes]
rs4927960	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927964	0.82[ASN][1000 genomes]
rs4927965	0.82[ASN][1000 genomes]
rs4927967	0.85[ASN][1000 genomes]
rs4927976	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927977	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927978	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927979	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927980	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927982	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927983	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927984	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4927986	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6445393	0.85[ASN][1000 genomes]
rs6445600	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445603	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445717	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445750	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6445779	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6445802	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6445843	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6446011	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6446118	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446167	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446168	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6767329	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6768601	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769957	0.85[ASN][1000 genomes]
rs6775483	0.85[ASN][1000 genomes]
rs6787773	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6793613	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6793648	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6795272	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6797368	0.85[ASN][1000 genomes]
rs6799211	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6803672	0.85[ASN][1000 genomes]
rs6806090	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6808206	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6809524	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7610901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611873	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7614785	0.85[ASN][1000 genomes]
rs7615291	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7629420	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629433	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7630616	0.85[ASN][1000 genomes]
rs7630730	0.85[ASN][1000 genomes]
rs7639161	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7640263	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7643781	0.89[ASN][1000 genomes]
rs7652655	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7652818	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7653451	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7653539	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9284887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9284888	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9713241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818841	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9827072	0.80[ASN][1000 genomes]
rs9828200	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9839860	0.85[ASN][1000 genomes]
rs9841339	0.85[ASN][1000 genomes]
rs9850021	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9857727	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9860862	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865363	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9871539	0.85[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	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51060800-51063600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:51061600-51063400	Enhancers	Stomach Mucosa	stomach
3	chr3:51061800-51063200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:51061800-51063200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr3:51061800-51063400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:51062000-51063200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:51062000-51063200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:51062000-51063200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr3:51062000-51063400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:51062000-51063400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr3:51062000-51063600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:51062200-51063000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:51062200-51063000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr3:51062200-51063200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:51062200-51063200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr3:51062200-51063200	Enhancers	Thymus	Thymus
17	chr3:51062200-51063200	Enhancers	Dnd41	blood
18	chr3:51062200-51063200	Enhancers	Hela-S3	cervix
19	chr3:51062200-51063400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr3:51062400-51063000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:51062400-51063200	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:51062400-51063200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:51062400-51063200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:51062400-51063200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:51062600-51063000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:51062600-51063000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:51062600-51063000	Flanking Active TSS	Colonic Mucosa	Colon
28	chr3:51062600-51063000	Enhancers	Esophagus	oesophagus
29	chr3:51062600-51063000	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:51062600-51063200	Enhancers	Fetal Thymus	thymus
31	chr3:51062600-51063200	Enhancers	Gastric	stomach
32	chr3:51062600-51063200	Enhancers	Left Ventricle	heart
33	chr3:51062600-51063200	Enhancers	NHEK	skin
34	chr3:51062600-51065200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:51062800-51063000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:51062800-51063000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr3:51062800-51063000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr3:51062800-51063200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:51062800-51063200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:51062800-51065200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:51062800-51065400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:51062800-51065600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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