Variant report

Variant	rs10057605
Chromosome Location	chr5:93443950-93443951
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10035340	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10036829	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10036891	0.83[AMR][1000 genomes]
rs10040648	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10044066	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10044139	0.93[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10050465	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10052662	0.93[CEU][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs10053405	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs10054790	0.92[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs10054903	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs10055340	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10055741	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10055994	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10056879	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10057130	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs10057814	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10058331	0.93[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10059230	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10060160	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10061080	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10061099	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10061377	0.83[AMR][1000 genomes]
rs10062711	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10063612	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10064368	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs10064520	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10065056	0.93[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10066791	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10067259	0.83[EUR][1000 genomes]
rs10070390	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10072232	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10072592	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10076052	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10076192	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10078194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10078941	0.93[CEU][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs10079708	0.93[CEU][hapmap];0.89[JPT][hapmap]
rs10214278	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10440717	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10476522	0.82[EUR][1000 genomes]
rs10476590	0.93[CEU][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs10476591	0.93[CEU][hapmap]
rs10476596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476597	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10476598	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10476599	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10476601	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10476602	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10514380	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10514382	0.93[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12109629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12152763	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12153501	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12153506	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12153788	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12187701	0.93[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12188163	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs12188453	0.93[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12189466	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12374432	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12374463	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12374470	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12374488	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12716453	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs12716454	0.85[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12716456	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12716457	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12716460	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12716462	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13153245	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154249	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13156002	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13156865	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13163610	0.93[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13165147	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13169675	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13170509	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13171131	0.83[AMR][1000 genomes]
rs13173952	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13174700	0.91[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13177800	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13181660	0.93[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13185608	0.93[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185660	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13186579	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13356088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13361613	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs17083455	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17314762	0.80[EUR][1000 genomes]
rs17314797	0.80[EUR][1000 genomes]
rs17314825	0.80[EUR][1000 genomes]
rs17315943	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17323433	0.92[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17374166	0.80[EUR][1000 genomes]
rs17374627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17376207	0.93[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17376456	0.93[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2085960	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2290937	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28412976	0.83[AMR][1000 genomes]
rs28539612	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28575883	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28633397	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637444	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28705226	0.80[EUR][1000 genomes]
rs34013242	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34068652	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34138834	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34184666	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34384674	0.88[AMR][1000 genomes]
rs34592268	0.80[EUR][1000 genomes]
rs34595581	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34621188	0.80[EUR][1000 genomes]
rs34673483	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34717672	0.81[EUR][1000 genomes]
rs34756085	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34854140	0.93[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35075119	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35184505	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35426871	0.83[EUR][1000 genomes]
rs35747258	0.93[AMR][1000 genomes]
rs36026719	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36091096	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3940842	0.93[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4547912	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55724660	0.80[EUR][1000 genomes]
rs55832164	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55947981	0.80[EUR][1000 genomes]
rs56046246	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56108532	0.80[EUR][1000 genomes]
rs56373208	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58734583	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59472588	0.90[EUR][1000 genomes]
rs61132622	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66696214	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66978370	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67066109	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67150649	0.83[EUR][1000 genomes]
rs6865441	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6867042	0.93[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6874766	0.83[AMR][1000 genomes]
rs6898842	0.83[AMR][1000 genomes]
rs71641007	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786702	0.80[EUR][1000 genomes]
rs72788365	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7701011	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701314	0.80[EUR][1000 genomes]
rs7701974	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7702521	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7715562	0.83[AMR][1000 genomes]
rs7718842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728736	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7734897	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7736620	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9314092	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9314093	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes]
rs9314095	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9314096	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9314099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9314100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9314102	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9885329	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9968691	0.93[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9968749	0.93[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93416600-93445800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:93419200-93445200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:93431000-93446600	Weak transcription	Gastric	stomach
4	chr5:93433800-93445800	Weak transcription	Fetal Thymus	thymus
5	chr5:93433800-93446400	Weak transcription	Ovary	ovary
6	chr5:93435800-93444800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:93436000-93444800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:93439600-93446000	Weak transcription	HSMMtube	muscle
9	chr5:93440000-93446200	Weak transcription	NH-A	brain
10	chr5:93440400-93446000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:93440600-93446000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:93441200-93446000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:93441400-93445000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:93441400-93446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:93441600-93445800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:93441800-93446000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:93442000-93446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:93442200-93444000	Strong transcription	Primary B cells from cord blood	blood
19	chr5:93442400-93446000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:93442400-93446000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:93442400-93446000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:93442600-93446000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:93442600-93446000	Weak transcription	Liver	Liver
24	chr5:93442600-93446000	Weak transcription	Fetal Kidney	kidney
25	chr5:93442600-93446000	Weak transcription	Fetal Lung	lung
26	chr5:93442800-93446000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:93442800-93446000	Weak transcription	Fetal Brain Female	brain
28	chr5:93442800-93446200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:93443000-93446000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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