Variant report

Variant	rs55959014
Chromosome Location	chr3:141804737-141804738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10935454	0.91[ASN][1000 genomes]
rs11569177	0.91[ASN][1000 genomes]
rs11569186	0.91[ASN][1000 genomes]
rs11569190	0.87[ASN][1000 genomes]
rs11569193	0.91[ASN][1000 genomes]
rs11569195	0.91[ASN][1000 genomes]
rs11569201	0.91[ASN][1000 genomes]
rs11569202	0.87[ASN][1000 genomes]
rs11569205	0.91[ASN][1000 genomes]
rs11569206	0.84[ASN][1000 genomes]
rs11569209	0.91[ASN][1000 genomes]
rs11569214	0.91[ASN][1000 genomes]
rs11706051	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11706152	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11706402	0.91[ASN][1000 genomes]
rs11706728	0.91[ASN][1000 genomes]
rs11708011	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11708301	0.91[ASN][1000 genomes]
rs11709650	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11711239	0.91[ASN][1000 genomes]
rs11711372	0.91[ASN][1000 genomes]
rs11711550	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11711960	0.91[ASN][1000 genomes]
rs11712148	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11712803	0.91[ASN][1000 genomes]
rs11713062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713191	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11713690	0.95[ASN][1000 genomes]
rs11715339	0.91[ASN][1000 genomes]
rs11715450	0.91[ASN][1000 genomes]
rs11716148	0.91[ASN][1000 genomes]
rs11716764	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11717306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717517	0.91[ASN][1000 genomes]
rs11719151	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11719793	0.91[ASN][1000 genomes]
rs11719806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720300	0.95[ASN][1000 genomes]
rs13086211	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13086954	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1877047	0.82[EUR][1000 genomes]
rs34262349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250413	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683418	0.91[ASN][1000 genomes]
rs4683419	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683422	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683659	0.91[ASN][1000 genomes]
rs4683660	0.87[ASN][1000 genomes]
rs4683661	0.87[ASN][1000 genomes]
rs4683663	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683669	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683670	0.91[ASN][1000 genomes]
rs4683673	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683674	0.91[ASN][1000 genomes]
rs4683675	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55633822	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55644127	0.95[ASN][1000 genomes]
rs55680729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778028	0.95[ASN][1000 genomes]
rs55781914	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55787733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814508	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55825152	0.91[ASN][1000 genomes]
rs55828926	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55838256	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55866605	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55871523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55881752	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884097	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55926409	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56008466	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080851	0.87[ASN][1000 genomes]
rs56104495	0.91[ASN][1000 genomes]
rs56116145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56128490	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132950	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56163066	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56180811	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56200713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291098	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56300836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335846	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56376383	0.91[ASN][1000 genomes]
rs56414145	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57156169	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60528783	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61729566	0.95[ASN][1000 genomes]
rs61737218	0.95[ASN][1000 genomes]
rs73232653	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232654	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232655	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73232657	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232659	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232663	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232664	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232666	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232667	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232670	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232673	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232674	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73232675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232682	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73232684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73232693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233879	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233880	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233881	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233883	0.92[EUR][1000 genomes]
rs73233885	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233886	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233887	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73233888	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73233890	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233891	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233892	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233893	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233895	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73233896	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233897	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233898	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233900	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73233902	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236004	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236005	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236007	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236009	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236012	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236013	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236016	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236018	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236030	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236032	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236033	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236034	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236038	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73236039	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236040	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236042	0.82[EUR][1000 genomes]
rs73236043	0.82[EUR][1000 genomes]
rs73236044	0.82[EUR][1000 genomes]
rs73236046	0.82[EUR][1000 genomes]
rs73236047	0.82[EUR][1000 genomes]
rs73236048	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236049	0.82[EUR][1000 genomes]
rs73236050	0.82[EUR][1000 genomes]
rs73236052	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236053	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73236054	0.82[EUR][1000 genomes]
rs73236055	0.82[EUR][1000 genomes]
rs73236056	0.81[EUR][1000 genomes]
rs73236057	0.81[EUR][1000 genomes]
rs73236058	0.82[EUR][1000 genomes]
rs9868050	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2757013	chr3:141756541-142094631	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1002123	chr3:141789746-141956778	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv536733	chr3:141789746-141956778	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1004784	chr3:141789746-142070290	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141761000-141807800	Weak transcription	Fetal Lung	lung
2	chr3:141761800-141819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:141763000-141820000	Weak transcription	Pancreas	Pancrea
4	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
5	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
6	chr3:141765000-141818800	Weak transcription	Primary B cells from cord blood	blood
7	chr3:141767600-141807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:141776000-141805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:141789600-141805000	Weak transcription	HepG2	liver
10	chr3:141795000-141806000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:141795800-141811000	Weak transcription	Esophagus	oesophagus
13	chr3:141796000-141807400	Weak transcription	Liver	Liver
14	chr3:141797200-141813000	Weak transcription	Fetal Stomach	stomach
15	chr3:141797400-141807400	Weak transcription	Lung	lung
16	chr3:141797600-141819600	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:141797600-141823600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:141797800-141807200	Weak transcription	Adipose Nuclei	Adipose
19	chr3:141799600-141814600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:141801000-141807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:141801000-141808000	Weak transcription	Ovary	ovary
22	chr3:141801200-141805000	Weak transcription	Thymus	Thymus
23	chr3:141801200-141808800	Weak transcription	Dnd41	blood
24	chr3:141801200-141809000	Strong transcription	Fetal Thymus	thymus
25	chr3:141803600-141814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:141803800-141804800	Weak transcription	Small Intestine	intestine
27	chr3:141804000-141819200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:141804000-141820800	Weak transcription	Left Ventricle	heart
29	chr3:141804400-141807000	Enhancers	Fetal Intestine Large	intestine
30	chr3:141804600-141805200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr3:141804600-141805400	Enhancers	A549	lung
32	chr3:141804600-141806000	Enhancers	Duodenum Mucosa	Duodenum
33	chr3:141804600-141806400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr3:141804600-141806800	Weak transcription	Hela-S3	cervix
35	chr3:141804600-141807000	Enhancers	Fetal Intestine Small	intestine

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