Variant report

Variant	rs7757560
Chromosome Location	chr6:38007487-38007488
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	chr6:38006995..38008635-chr6:38029863..38032307,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11968604	0.95[AMR][1000 genomes]
rs11970017	1.00[AMR][1000 genomes]
rs11970145	1.00[AMR][1000 genomes]
rs13207526	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13210087	0.85[ASN][1000 genomes]
rs13211881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13217630	0.82[EUR][1000 genomes]
rs13218158	1.00[AMR][1000 genomes]
rs16890194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890301	0.89[EUR][1000 genomes]
rs2453882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645096	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2645104	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645118	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645121	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645123	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645126	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2842498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2842499	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842511	0.80[AMR][1000 genomes]
rs2842512	0.80[AMR][1000 genomes]
rs2842513	0.87[AMR][1000 genomes]
rs2842514	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842516	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2842524	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34038972	0.82[EUR][1000 genomes]
rs34054102	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34123707	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34406273	0.82[EUR][1000 genomes]
rs34611895	1.00[AMR][1000 genomes]
rs34754573	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35202194	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35248825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35330991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35597126	0.82[EUR][1000 genomes]
rs35609407	1.00[AMR][1000 genomes]
rs35953900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4711518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55943813	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6458037	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6908761	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6910837	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912250	1.00[AMR][1000 genomes]
rs6917208	0.82[EUR][1000 genomes]
rs6918802	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6923665	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6940491	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71569395	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71569399	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71569402	0.89[EUR][1000 genomes]
rs7740636	0.82[EUR][1000 genomes]
rs7742379	1.00[AMR][1000 genomes]
rs7747538	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7760770	0.95[AMR][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	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
7	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
8	nsv970298	chr6:38003938-38014330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37994400-38011400	Weak transcription	Aorta	Aorta
3	chr6:37995800-38008000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:37995800-38013000	Weak transcription	Fetal Thymus	thymus
5	chr6:37995800-38020600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:37996000-38015400	Weak transcription	HSMMtube	muscle
7	chr6:37996200-38008000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:37996200-38008600	Weak transcription	HUVEC	blood vessel
9	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:37999800-38008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:37999800-38017600	Weak transcription	Right Atrium	heart
12	chr6:37999800-38018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:38002600-38008600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:38002800-38017800	Weak transcription	HSMM	muscle
17	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
18	chr6:38003000-38008400	Weak transcription	Fetal Lung	lung
19	chr6:38003000-38008600	Weak transcription	Brain Anterior Caudate	brain
20	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
23	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
24	chr6:38003800-38008400	Weak transcription	Liver	Liver
25	chr6:38003800-38017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:38004000-38008800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:38004000-38011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:38004000-38018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:38004000-38018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:38004200-38008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:38004200-38013600	Weak transcription	Small Intestine	intestine
32	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
34	chr6:38006000-38011400	Weak transcription	Left Ventricle	heart
35	chr6:38006200-38010000	Weak transcription	Brain Substantia Nigra	brain
36	chr6:38006800-38011000	Weak transcription	Psoas Muscle	Psoas
37	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
38	chr6:38007000-38007600	Enhancers	Osteobl	bone
39	chr6:38007000-38009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:38007200-38007800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:38007200-38009000	Enhancers	HepG2	liver
42	chr6:38007400-38008400	Weak transcription	A549	lung
43	chr6:38007400-38025400	Weak transcription	NH-A	brain

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