Variant report

Variant	rs1420623
Chromosome Location	chr4:87739350-87739351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10000226	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10000891	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10001010	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10001986	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10002511	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10003989	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10009119	0.91[AMR][1000 genomes]
rs10009309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10009603	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10009758	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10009789	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10013048	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10013114	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10013467	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10013878	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10015000	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10016082	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10016120	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10016124	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10016456	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020590	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10021168	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10023163	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10024496	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10024631	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10024860	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10025930	1.00[AMR][1000 genomes]
rs10026645	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10028003	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10028357	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10028550	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10029055	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10029565	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10030981	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10032126	0.97[EUR][1000 genomes]
rs10032979	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10033029	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10033679	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10084899	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10084902	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10084954	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10212681	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10212723	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10213021	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10213484	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10213632	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1038290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10470883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10470933	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10516780	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10516783	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10516784	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11097118	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11097119	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11097120	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11947598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171330	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171331	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171388	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12171414	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171445	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171459	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171474	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12498606	0.97[EUR][1000 genomes]
rs12498681	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12499471	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12499477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12499575	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12499984	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12499991	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12500797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12502376	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12504551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507034	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12507163	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12508339	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12508746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12509560	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12511153	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12511318	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12512858	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12710827	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13108514	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13108571	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13108581	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13108735	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13109164	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13110760	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13111757	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13112139	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13112150	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13115122	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13115681	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13117481	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13118632	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13120724	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13131069	1.00[AMR][1000 genomes]
rs13135528	0.83[AFR][1000 genomes]
rs13136201	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13136651	0.84[AMR][1000 genomes]
rs13148078	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13148807	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13149431	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152382	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1420620	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1420622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454432	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17454655	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17694358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409669	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28411302	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28416315	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28417582	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28441099	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28448567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28455719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28483600	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28491390	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28502328	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28535818	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28545322	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28548225	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28558568	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570548	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28572183	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28572787	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28578632	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28587332	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28610135	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28619493	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28623441	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28631999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634740	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28645624	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28663463	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28674577	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28682899	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28696860	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28710769	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28785508	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28785868	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28833029	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28846151	0.96[AMR][1000 genomes]
rs28846800	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28868582	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28877076	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34178790	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34320168	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34371873	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35254293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35323910	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35355289	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35528563	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35915886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35982123	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66584788	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67067959	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6817630	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71605612	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71605613	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71605614	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71605615	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71605617	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71605618	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71633353	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7664147	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7664860	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7698481	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7699564	0.81[AMR][1000 genomes]
rs9307022	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9307023	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9307024	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9884784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9985645	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990536	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9993492	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9993838	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9994213	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9997271	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9997453	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9999866	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv2556485	chr4:87739347-87739353	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv2367950	chr4:87739347-87739354	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87712600-87751400	Weak transcription	Aorta	Aorta
2	chr4:87712800-87739600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:87731200-87756000	Weak transcription	Pancreas	Pancrea
4	chr4:87732400-87760000	Weak transcription	Psoas Muscle	Psoas
5	chr4:87735600-87740400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:87737200-87739400	Weak transcription	NH-A	brain
7	chr4:87737200-87741000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:87737400-87739400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:87737400-87739400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:87737400-87739600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:87737400-87739600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:87737400-87739800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:87737400-87739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:87737400-87741200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:87737400-87743600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:87737400-87744200	Weak transcription	Left Ventricle	heart
17	chr4:87737600-87739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:87737600-87740200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:87737600-87740600	Enhancers	Fetal Lung	lung
20	chr4:87737600-87742200	Weak transcription	Fetal Kidney	kidney
21	chr4:87737600-87744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:87737600-87746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:87737600-87752600	Weak transcription	Esophagus	oesophagus
24	chr4:87737800-87739800	Weak transcription	HMEC	breast
25	chr4:87737800-87739800	Enhancers	NHEK	skin
26	chr4:87737800-87741000	Enhancers	Fetal Intestine Large	intestine
27	chr4:87737800-87754800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:87738000-87739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:87738000-87741200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:87738000-87743000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:87738200-87739600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:87738200-87740000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:87738200-87740600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:87738200-87746800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:87738200-87752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:87738400-87739400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:87738400-87739800	Enhancers	NHDF-Ad	bronchial
38	chr4:87738400-87743200	Weak transcription	Adipose Nuclei	Adipose
39	chr4:87738400-87744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:87738400-87744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:87738400-87746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:87738600-87739600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:87738600-87741000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:87738600-87743400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:87738800-87739600	Enhancers	Small Intestine	intestine
46	chr4:87738800-87739600	Enhancers	NHLF	lung
47	chr4:87738800-87740000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:87739000-87739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:87739000-87739800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:87739000-87739800	Enhancers	Stomach Mucosa	stomach

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