Variant report

Variant	rs2842513
Chromosome Location	chr6:37909863-37909864
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	chr6:37904858..37907835-chr6:37909386..37911345,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11752521	0.87[AFR][1000 genomes]
rs11756713	0.86[AFR][1000 genomes]
rs11964613	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11964671	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11968604	0.83[AMR][1000 genomes]
rs11969988	0.87[AFR][1000 genomes]
rs11970017	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11970145	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12660919	0.87[AFR][1000 genomes]
rs12664091	0.86[AFR][1000 genomes]
rs13198459	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13203867	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13205214	0.82[AFR][1000 genomes]
rs13207526	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13211881	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13218158	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13219500	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890194	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2395689	0.85[EUR][1000 genomes]
rs2453882	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645096	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645098	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645104	0.83[AMR][1000 genomes]
rs2645111	0.85[AFR][1000 genomes]
rs2645115	0.87[AMR][1000 genomes]
rs2645125	0.81[AFR][1000 genomes]
rs2645130	0.90[AFR][1000 genomes]
rs28385568	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842498	0.87[AMR][1000 genomes]
rs2842499	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842506	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842510	0.90[AFR][1000 genomes]
rs2842511	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2842512	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2842514	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842516	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842521	0.82[AFR][1000 genomes]
rs33997846	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34011349	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34054102	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254045	0.86[AFR][1000 genomes]
rs34449592	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34611895	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34618835	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34634043	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34745343	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35051126	0.85[EUR][1000 genomes]
rs35248825	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35330991	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35465740	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35575717	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35609407	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35653300	0.81[EUR][1000 genomes]
rs35849984	0.90[AFR][1000 genomes]
rs35953900	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3844314	0.86[AFR][1000 genomes]
rs4394213	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711518	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391784	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56678832	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906289	0.82[AFR][1000 genomes]
rs6910837	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6911481	0.82[EUR][1000 genomes]
rs6911716	0.87[AFR][1000 genomes]
rs6912250	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6916535	0.91[ASN][1000 genomes]
rs6917736	0.81[EUR][1000 genomes]
rs6918802	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6919884	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6923132	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6923254	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6925563	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569395	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71569397	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742379	0.87[AMR][1000 genomes]
rs7745796	0.81[AFR][1000 genomes]
rs7746266	0.81[AFR][1000 genomes]
rs7747538	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7747996	0.81[AFR][1000 genomes]
rs7757560	0.87[AMR][1000 genomes]
rs7760770	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7775794	0.89[AFR][1000 genomes]
rs7776025	0.85[EUR][1000 genomes];0.95[ASN][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	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
5	chr6:37890800-37910400	Weak transcription	NHEK	skin
6	chr6:37892600-37910800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:37893200-37910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
10	chr6:37897200-37910600	Weak transcription	A549	lung
11	chr6:37898200-37913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:37898600-37910400	Weak transcription	Fetal Kidney	kidney
13	chr6:37901000-37915400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:37902200-37910600	Weak transcription	NHLF	lung
15	chr6:37902200-37913600	Weak transcription	HepG2	liver
16	chr6:37903400-37911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:37904800-37920400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:37904800-37920400	Weak transcription	Small Intestine	intestine
19	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:37905000-37910200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:37905000-37911000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:37905000-37919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:37905200-37910400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:37905200-37910400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:37905200-37910800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:37905200-37910800	Weak transcription	HMEC	breast
27	chr6:37905800-37911400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:37905800-37916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:37905800-37916600	Weak transcription	Dnd41	blood
30	chr6:37905800-37924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:37906800-37910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:37907000-37921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:37907000-37926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:37907200-37911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:37907600-37910000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:37907800-37910200	Enhancers	Fetal Brain Male	brain
37	chr6:37908000-37911000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:37908000-37912400	Weak transcription	Left Ventricle	heart
39	chr6:37908200-37910000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:37908200-37910800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:37908200-37913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:37908400-37911400	Enhancers	Adipose Nuclei	Adipose
43	chr6:37908600-37910400	Weak transcription	Fetal Lung	lung
44	chr6:37908600-37911000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:37908600-37920400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:37908800-37910000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:37908800-37910200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:37909000-37910000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:37909000-37910000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:37909000-37910000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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