Variant report

Variant	rs57995712
Chromosome Location	chr6:37988632-37988633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37988302..37990407-chr6:37992998..37995067,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10498739	0.89[ASN][1000 genomes]
rs10498740	0.89[ASN][1000 genomes]
rs10947710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544072	0.80[EUR][1000 genomes]
rs11750950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11751094	0.83[EUR][1000 genomes]
rs11751706	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11751937	0.80[EUR][1000 genomes]
rs11752623	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11752863	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11753054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753122	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11753267	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11753388	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11753391	0.83[EUR][1000 genomes]
rs11753408	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11753437	0.83[EUR][1000 genomes]
rs11753563	0.83[EUR][1000 genomes]
rs11753759	0.83[EUR][1000 genomes]
rs11754980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11755600	0.83[EUR][1000 genomes]
rs11755894	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11756030	0.88[EUR][1000 genomes]
rs11756626	0.88[EUR][1000 genomes]
rs11756902	0.80[EUR][1000 genomes]
rs11757072	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11757143	0.85[EUR][1000 genomes]
rs11757323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757654	0.83[EUR][1000 genomes]
rs11757980	0.83[EUR][1000 genomes]
rs11758095	0.83[EUR][1000 genomes]
rs11758540	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11758747	0.85[AFR][1000 genomes]
rs11759205	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11759483	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11759725	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11759816	0.83[EUR][1000 genomes]
rs12660221	0.83[ASN][1000 genomes]
rs12660498	0.94[ASN][1000 genomes]
rs12660732	0.83[ASN][1000 genomes]
rs12660773	0.99[ASN][1000 genomes]
rs12660922	0.89[ASN][1000 genomes]
rs12661073	0.83[ASN][1000 genomes]
rs12661109	0.99[ASN][1000 genomes]
rs12661480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12662305	0.89[ASN][1000 genomes]
rs12662543	0.83[EUR][1000 genomes]
rs12662823	0.99[ASN][1000 genomes]
rs12662940	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12663086	0.98[ASN][1000 genomes]
rs12663427	0.82[ASN][1000 genomes]
rs12663957	0.99[ASN][1000 genomes]
rs12664900	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890215	0.81[ASN][1000 genomes]
rs16890247	0.88[ASN][1000 genomes]
rs16890298	0.94[ASN][1000 genomes]
rs16890299	0.94[ASN][1000 genomes]
rs16890305	0.96[ASN][1000 genomes]
rs16890307	0.94[ASN][1000 genomes]
rs16890309	0.96[ASN][1000 genomes]
rs16890341	0.83[ASN][1000 genomes]
rs1923280	0.83[EUR][1000 genomes]
rs2055207	0.83[ASN][1000 genomes]
rs2055208	0.82[ASN][1000 genomes]
rs2145887	0.82[EUR][1000 genomes]
rs2645125	0.80[ASN][1000 genomes]
rs2842521	0.80[ASN][1000 genomes]
rs28740822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34370874	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142414	0.96[EUR][1000 genomes]
rs35248010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3800364	0.80[EUR][1000 genomes]
rs3852216	0.88[ASN][1000 genomes]
rs55707043	0.88[EUR][1000 genomes]
rs55731063	0.80[EUR][1000 genomes]
rs55743233	0.88[EUR][1000 genomes]
rs55786703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55786741	0.86[EUR][1000 genomes]
rs55825770	0.88[EUR][1000 genomes]
rs55836194	0.88[EUR][1000 genomes]
rs55878533	0.88[EUR][1000 genomes]
rs55902626	0.80[EUR][1000 genomes]
rs55972258	0.83[EUR][1000 genomes]
rs55990078	0.88[EUR][1000 genomes]
rs56030069	0.80[EUR][1000 genomes]
rs56073681	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56106114	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56178553	0.83[EUR][1000 genomes]
rs56229452	0.88[EUR][1000 genomes]
rs56308246	0.88[EUR][1000 genomes]
rs56348433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366053	0.94[EUR][1000 genomes]
rs56390138	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413211	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56688119	0.83[ASN][1000 genomes]
rs56914148	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57040650	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57142729	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57160603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57180729	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57276677	0.87[ASN][1000 genomes]
rs57458792	0.94[ASN][1000 genomes]
rs57564251	0.83[EUR][1000 genomes]
rs57591988	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57630694	0.81[EUR][1000 genomes]
rs57911756	0.87[ASN][1000 genomes]
rs58003999	0.83[EUR][1000 genomes]
rs58084785	0.96[ASN][1000 genomes]
rs58320470	0.81[ASN][1000 genomes]
rs58332635	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58473303	0.99[ASN][1000 genomes]
rs59036086	0.88[ASN][1000 genomes]
rs59103990	0.89[ASN][1000 genomes]
rs59450336	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59578279	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59693994	0.80[EUR][1000 genomes]
rs59769374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59859268	0.82[ASN][1000 genomes]
rs59996041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60109083	0.83[EUR][1000 genomes]
rs60404082	0.99[ASN][1000 genomes]
rs60425175	0.83[ASN][1000 genomes]
rs60508820	0.99[ASN][1000 genomes]
rs60883115	0.98[ASN][1000 genomes]
rs61090283	0.81[ASN][1000 genomes]
rs61108907	0.82[ASN][1000 genomes]
rs61172238	0.83[ASN][1000 genomes]
rs61277916	0.93[ASN][1000 genomes]
rs73417963	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73417971	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417972	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417996	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419907	0.90[EUR][1000 genomes]
rs73419916	0.88[EUR][1000 genomes]
rs73419919	0.88[EUR][1000 genomes]
rs73419927	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73419930	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73419938	0.88[EUR][1000 genomes]
rs73419941	0.88[EUR][1000 genomes]
rs73419944	0.88[EUR][1000 genomes]
rs73419945	0.88[EUR][1000 genomes]
rs73419946	0.88[EUR][1000 genomes]
rs73419947	0.85[EUR][1000 genomes]
rs73419949	0.88[EUR][1000 genomes]
rs73419955	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73419959	0.88[EUR][1000 genomes]
rs73419960	0.88[EUR][1000 genomes]
rs73419963	0.88[EUR][1000 genomes]
rs73419996	0.86[EUR][1000 genomes]
rs73421427	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73421433	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73421436	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73421439	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73421444	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73421455	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73421464	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73421467	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73421473	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73421477	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73421479	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73421483	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73421810	0.83[EUR][1000 genomes]
rs73421817	0.83[EUR][1000 genomes]
rs73421819	0.83[EUR][1000 genomes]
rs73421822	0.83[EUR][1000 genomes]
rs73421825	0.83[EUR][1000 genomes]
rs73421831	0.83[EUR][1000 genomes]
rs73421842	0.83[EUR][1000 genomes]
rs73421855	0.83[EUR][1000 genomes]
rs73421866	0.83[EUR][1000 genomes]
rs73421874	0.83[EUR][1000 genomes]
rs73421889	0.83[EUR][1000 genomes]
rs73423525	0.80[EUR][1000 genomes]
rs752110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7739801	0.85[ASN][1000 genomes]
rs876818	0.80[EUR][1000 genomes]
rs9470765	0.85[EUR][1000 genomes]
rs9470772	0.85[EUR][1000 genomes]
rs9470796	0.80[EUR][1000 genomes]
rs9470798	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37979400-37989000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:37981400-37989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:37981400-37989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:37981400-37990400	Weak transcription	Fetal Brain Female	brain
6	chr6:37982600-37989400	Weak transcription	Psoas Muscle	Psoas
7	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:37984200-37989400	Enhancers	Liver	Liver
10	chr6:37985000-37989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:37985200-37989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:37985200-37991400	Weak transcription	GM12878-XiMat	blood
16	chr6:37985200-37995000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:37985200-37995400	Weak transcription	A549	lung
18	chr6:37985200-37995600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
20	chr6:37985400-37989000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:37985400-37992200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:37987000-37993600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:37987400-37990800	Enhancers	Colon Smooth Muscle	Colon
24	chr6:37987600-37989600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:37987600-37989800	Enhancers	Left Ventricle	heart
26	chr6:37987600-37989800	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:37987800-37990000	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:37987800-37990400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:37987800-37990800	Enhancers	Fetal Stomach	stomach
30	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
31	chr6:37988200-37989200	Enhancers	Fetal Lung	lung
32	chr6:37988400-37988800	Enhancers	Brain Substantia Nigra	brain
33	chr6:37988400-37988800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:37988400-37989000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:37988400-37989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:37988400-37989800	Enhancers	Brain Anterior Caudate	brain
37	chr6:37988400-37990400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:37988400-37990400	Enhancers	Brain Hippocampus Middle	brain
39	chr6:37988400-37995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:37988600-37989400	Weak transcription	Right Ventricle	heart
41	chr6:37988600-37989600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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