Variant report

Variant	rs59996041
Chromosome Location	chr6:37952625-37952626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10498739	0.94[ASN][1000 genomes]
rs10498740	0.94[ASN][1000 genomes]
rs10947710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11750950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751706	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11751781	0.81[ASN][1000 genomes]
rs11752567	0.84[EUR][1000 genomes]
rs11752623	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11752650	0.81[EUR][1000 genomes]
rs11752692	0.83[EUR][1000 genomes]
rs11752863	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753118	0.84[EUR][1000 genomes]
rs11753122	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11753267	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11753388	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11753408	0.81[AFR][1000 genomes]
rs11754590	0.84[EUR][1000 genomes]
rs11754980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11755894	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11756030	0.94[EUR][1000 genomes]
rs11756626	0.83[EUR][1000 genomes]
rs11757072	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11757323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11757359	0.84[EUR][1000 genomes]
rs11758035	0.84[EUR][1000 genomes]
rs11758540	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11758747	0.85[AFR][1000 genomes]
rs11759205	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11759483	0.84[AFR][1000 genomes]
rs11759486	0.84[EUR][1000 genomes]
rs11759574	0.83[EUR][1000 genomes]
rs11759721	0.83[EUR][1000 genomes]
rs11759725	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11759826	0.80[ASN][1000 genomes]
rs12660498	0.99[ASN][1000 genomes]
rs12660773	0.94[ASN][1000 genomes]
rs12660922	0.94[ASN][1000 genomes]
rs12661109	0.94[ASN][1000 genomes]
rs12661480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662305	0.93[ASN][1000 genomes]
rs12662823	0.94[ASN][1000 genomes]
rs12662940	0.84[AFR][1000 genomes]
rs12663086	0.93[ASN][1000 genomes]
rs12663957	0.94[ASN][1000 genomes]
rs12664900	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13206035	0.80[ASN][1000 genomes]
rs16890215	0.86[ASN][1000 genomes]
rs16890247	0.93[ASN][1000 genomes]
rs16890298	0.99[ASN][1000 genomes]
rs16890299	0.99[ASN][1000 genomes]
rs16890301	0.84[ASN][1000 genomes]
rs16890305	0.98[ASN][1000 genomes]
rs16890307	0.96[ASN][1000 genomes]
rs16890309	0.98[ASN][1000 genomes]
rs2645111	0.81[ASN][1000 genomes]
rs2645125	0.84[ASN][1000 genomes]
rs2842521	0.84[ASN][1000 genomes]
rs28740822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34370874	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34450348	0.81[ASN][1000 genomes]
rs35142414	0.90[EUR][1000 genomes]
rs35248010	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35772972	0.80[ASN][1000 genomes]
rs3852216	0.93[ASN][1000 genomes]
rs55707043	0.83[EUR][1000 genomes]
rs55743233	0.83[EUR][1000 genomes]
rs55786703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55786741	0.80[EUR][1000 genomes]
rs55825770	0.83[EUR][1000 genomes]
rs55836194	0.83[EUR][1000 genomes]
rs55837436	0.83[EUR][1000 genomes]
rs55878533	0.83[EUR][1000 genomes]
rs55990078	0.83[EUR][1000 genomes]
rs56023538	0.81[ASN][1000 genomes]
rs56073681	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56106114	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56159928	0.83[EUR][1000 genomes]
rs56229452	0.83[EUR][1000 genomes]
rs56308246	0.83[EUR][1000 genomes]
rs56348433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56366053	0.94[EUR][1000 genomes]
rs56390138	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56413211	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56914148	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57040650	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57142729	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57160603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57180729	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57269218	0.83[EUR][1000 genomes]
rs57276677	0.92[ASN][1000 genomes]
rs57458792	0.99[ASN][1000 genomes]
rs57591988	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57911756	0.92[ASN][1000 genomes]
rs57995712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58084785	0.98[ASN][1000 genomes]
rs58320470	0.86[ASN][1000 genomes]
rs58332635	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58473303	0.94[ASN][1000 genomes]
rs59036086	0.93[ASN][1000 genomes]
rs59103990	0.94[ASN][1000 genomes]
rs59450336	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59578279	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs59769374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59859268	0.87[ASN][1000 genomes]
rs60404082	0.94[ASN][1000 genomes]
rs60508820	0.94[ASN][1000 genomes]
rs60637081	0.82[ASN][1000 genomes]
rs60883115	0.93[ASN][1000 genomes]
rs61090283	0.86[ASN][1000 genomes]
rs61108907	0.87[ASN][1000 genomes]
rs61277916	0.98[ASN][1000 genomes]
rs71569402	0.81[ASN][1000 genomes]
rs73417491	0.84[EUR][1000 genomes]
rs73417502	0.81[EUR][1000 genomes]
rs73417963	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73417971	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73417972	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73417996	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73417997	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73419414	0.81[EUR][1000 genomes]
rs73419417	0.81[EUR][1000 genomes]
rs73419418	0.84[EUR][1000 genomes]
rs73419422	0.84[EUR][1000 genomes]
rs73419436	0.84[EUR][1000 genomes]
rs73419447	0.84[EUR][1000 genomes]
rs73419451	0.84[EUR][1000 genomes]
rs73419457	0.84[EUR][1000 genomes]
rs73419461	0.84[EUR][1000 genomes]
rs73419465	0.84[EUR][1000 genomes]
rs73419475	0.84[EUR][1000 genomes]
rs73419487	0.84[EUR][1000 genomes]
rs73419907	0.84[EUR][1000 genomes]
rs73419916	0.83[EUR][1000 genomes]
rs73419919	0.83[EUR][1000 genomes]
rs73419927	0.83[EUR][1000 genomes]
rs73419930	0.87[AFR][1000 genomes]
rs73419938	0.83[EUR][1000 genomes]
rs73419941	0.83[EUR][1000 genomes]
rs73419944	0.83[EUR][1000 genomes]
rs73419945	0.83[EUR][1000 genomes]
rs73419946	0.83[EUR][1000 genomes]
rs73419949	0.83[EUR][1000 genomes]
rs73419955	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73419959	0.83[EUR][1000 genomes]
rs73419960	0.83[EUR][1000 genomes]
rs73419963	0.83[EUR][1000 genomes]
rs73419996	0.80[EUR][1000 genomes]
rs73421427	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73421433	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73421436	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73421439	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73421444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421455	0.90[AMR][1000 genomes];1.00[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]
rs752110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739801	0.87[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:80 , 50 per page) page: 1 2

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	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:37929400-37953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:37942400-37953200	Weak transcription	Esophagus	oesophagus
6	chr6:37942800-37953600	Weak transcription	HepG2	liver
7	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
8	chr6:37943000-37953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
10	chr6:37946200-37953200	Weak transcription	GM12878-XiMat	blood
11	chr6:37946800-37955800	Weak transcription	Primary B cells from cord blood	blood
12	chr6:37948000-37954400	Weak transcription	A549	lung
13	chr6:37948000-37955400	Weak transcription	Left Ventricle	heart
14	chr6:37948000-37955400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:37948000-37956800	Weak transcription	Pancreas	Pancrea
16	chr6:37948200-37955200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:37948200-37955600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:37948400-37954800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:37948400-37955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:37948400-37957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:37948400-37958600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:37948600-37957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:37949000-37953800	Weak transcription	Stomach Mucosa	stomach
24	chr6:37949200-37955400	Weak transcription	Fetal Kidney	kidney
25	chr6:37949200-37955400	Weak transcription	Right Ventricle	heart
26	chr6:37949400-37954000	Weak transcription	Fetal Lung	lung
27	chr6:37949400-37954400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:37949600-37955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:37949800-37953800	Weak transcription	Psoas Muscle	Psoas
30	chr6:37949800-37954000	Weak transcription	Brain Anterior Caudate	brain
31	chr6:37949800-37955400	Weak transcription	Adipose Nuclei	Adipose
32	chr6:37949800-37955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:37949800-37956800	Weak transcription	Right Atrium	heart
34	chr6:37949800-37962000	Weak transcription	Small Intestine	intestine
35	chr6:37950000-37954000	Weak transcription	HSMM	muscle
36	chr6:37950000-37954800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:37950000-37955400	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
39	chr6:37950400-37953200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:37950400-37953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:37950400-37954000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:37950400-37954000	Weak transcription	HSMMtube	muscle
43	chr6:37950400-37954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:37950400-37955400	Weak transcription	Brain Substantia Nigra	brain
45	chr6:37950400-37956000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:37950400-37957000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:37950400-37958800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:37950600-37953400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:37950600-37954800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:37950600-37955400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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