Variant report

Variant	rs57591988
Chromosome Location	chr6:37943292-37943293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37873063..37875947-chr6:37943285..37945175,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1041037	0.81[EUR][1000 genomes]
rs10498739	0.94[ASN][1000 genomes]
rs10498740	0.94[ASN][1000 genomes]
rs10947710	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750950	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11751706	0.97[EUR][1000 genomes]
rs11751781	0.81[ASN][1000 genomes]
rs11752567	0.87[EUR][1000 genomes]
rs11752623	0.89[EUR][1000 genomes]
rs11752650	0.84[EUR][1000 genomes]
rs11752692	0.86[EUR][1000 genomes]
rs11752863	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753054	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11753118	0.87[EUR][1000 genomes]
rs11753122	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11753267	0.97[EUR][1000 genomes]
rs11753388	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11754247	0.83[EUR][1000 genomes]
rs11754248	0.80[EUR][1000 genomes]
rs11754590	0.87[EUR][1000 genomes]
rs11754980	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11755559	0.81[EUR][1000 genomes]
rs11755894	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11756030	0.97[EUR][1000 genomes]
rs11757323	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757359	0.87[EUR][1000 genomes]
rs11758035	0.87[EUR][1000 genomes]
rs11758095	0.82[AFR][1000 genomes]
rs11758540	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11759205	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11759475	0.83[EUR][1000 genomes]
rs11759483	0.89[AFR][1000 genomes]
rs11759486	0.87[EUR][1000 genomes]
rs11759574	0.86[EUR][1000 genomes]
rs11759721	0.86[EUR][1000 genomes]
rs11759725	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11759826	0.80[ASN][1000 genomes]
rs12660498	0.96[ASN][1000 genomes]
rs12660773	0.91[ASN][1000 genomes]
rs12660922	0.94[ASN][1000 genomes]
rs12661109	0.91[ASN][1000 genomes]
rs12661480	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662305	0.93[ASN][1000 genomes]
rs12662543	0.82[AFR][1000 genomes]
rs12662823	0.91[ASN][1000 genomes]
rs12662940	0.89[AFR][1000 genomes]
rs12663086	0.90[ASN][1000 genomes]
rs12663957	0.91[ASN][1000 genomes]
rs12664900	0.84[AFR][1000 genomes]
rs13206035	0.80[ASN][1000 genomes]
rs16890215	0.86[ASN][1000 genomes]
rs16890247	0.93[ASN][1000 genomes]
rs16890298	0.96[ASN][1000 genomes]
rs16890299	0.96[ASN][1000 genomes]
rs16890301	0.81[ASN][1000 genomes]
rs16890305	0.94[ASN][1000 genomes]
rs16890307	0.93[ASN][1000 genomes]
rs16890309	0.94[ASN][1000 genomes]
rs2145887	0.82[AFR][1000 genomes]
rs2645111	0.84[ASN][1000 genomes]
rs2645125	0.81[ASN][1000 genomes]
rs2842521	0.81[ASN][1000 genomes]
rs28740822	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34370874	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34450348	0.81[ASN][1000 genomes]
rs35142414	0.82[EUR][1000 genomes]
rs35248010	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35772972	0.80[ASN][1000 genomes]
rs3852216	0.93[ASN][1000 genomes]
rs55786703	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55811006	0.81[EUR][1000 genomes]
rs55837436	0.86[EUR][1000 genomes]
rs56023538	0.81[ASN][1000 genomes]
rs56073681	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56106114	0.97[EUR][1000 genomes]
rs56159928	0.86[EUR][1000 genomes]
rs56348433	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56366053	0.86[EUR][1000 genomes]
rs56390138	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56413211	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57040650	0.97[EUR][1000 genomes]
rs57160603	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57180729	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57269218	0.86[EUR][1000 genomes]
rs57276677	0.92[ASN][1000 genomes]
rs57458792	0.96[ASN][1000 genomes]
rs57911756	0.92[ASN][1000 genomes]
rs57995712	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58084785	0.94[ASN][1000 genomes]
rs58320470	0.86[ASN][1000 genomes]
rs58473303	0.91[ASN][1000 genomes]
rs59036086	0.93[ASN][1000 genomes]
rs59103990	0.94[ASN][1000 genomes]
rs59450336	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59769374	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59859268	0.87[ASN][1000 genomes]
rs59996041	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60404082	0.91[ASN][1000 genomes]
rs60508820	0.91[ASN][1000 genomes]
rs60637081	0.82[ASN][1000 genomes]
rs60883115	0.89[ASN][1000 genomes]
rs61090283	0.86[ASN][1000 genomes]
rs61108907	0.87[ASN][1000 genomes]
rs61277916	0.94[ASN][1000 genomes]
rs73417491	0.87[EUR][1000 genomes]
rs73417502	0.84[EUR][1000 genomes]
rs73417963	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73417971	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73417972	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73417996	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73417997	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73419414	0.84[EUR][1000 genomes]
rs73419417	0.84[EUR][1000 genomes]
rs73419418	0.87[EUR][1000 genomes]
rs73419422	0.87[EUR][1000 genomes]
rs73419436	0.87[EUR][1000 genomes]
rs73419447	0.87[EUR][1000 genomes]
rs73419451	0.87[EUR][1000 genomes]
rs73419457	0.87[EUR][1000 genomes]
rs73419461	0.87[EUR][1000 genomes]
rs73419465	0.87[EUR][1000 genomes]
rs73419475	0.87[EUR][1000 genomes]
rs73419487	0.87[EUR][1000 genomes]
rs73419930	0.82[AFR][1000 genomes]
rs73421427	0.97[EUR][1000 genomes]
rs73421433	0.97[EUR][1000 genomes]
rs73421436	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73421439	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73421444	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73421455	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73421464	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73421467	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73421473	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73421477	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73421479	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73421483	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs752110	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739801	0.84[ASN][1000 genomes]
rs7759792	0.81[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37923600-37947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:37929400-37947800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:37929400-37953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37934400-37949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:37934800-37947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:37935000-37947000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37935200-37947000	Weak transcription	NHEK	skin
11	chr6:37936600-37947400	Weak transcription	Left Ventricle	heart
12	chr6:37939400-37947400	Weak transcription	Ovary	ovary
13	chr6:37940400-37948600	Weak transcription	HSMMtube	muscle
14	chr6:37941200-37945000	ZNF genes & repeats	GM12878-XiMat	blood
15	chr6:37941200-37947000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:37941800-37943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:37942400-37945000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:37942400-37953200	Weak transcription	Esophagus	oesophagus
19	chr6:37942800-37943600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:37942800-37946600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:37942800-37947200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:37942800-37947200	Weak transcription	A549	lung
23	chr6:37942800-37947800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:37942800-37949600	Weak transcription	Spleen	Spleen
25	chr6:37942800-37953600	Weak transcription	HepG2	liver
26	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
27	chr6:37943000-37944400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:37943000-37944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:37943000-37946400	Weak transcription	Psoas Muscle	Psoas
30	chr6:37943000-37947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:37943000-37947000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:37943000-37947200	Weak transcription	Fetal Lung	lung
33	chr6:37943000-37947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:37943000-37947800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:37943000-37948800	Weak transcription	HSMM	muscle
36	chr6:37943000-37949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:37943000-37951600	Weak transcription	NHDF-Ad	bronchial
38	chr6:37943000-37953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
40	chr6:37943200-37943600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:37943200-37944800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:37943200-37947200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:37943200-37947200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:37943200-37947400	Weak transcription	Liver	Liver
45	chr6:37943200-37951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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