Variant report

Variant	rs808593
Chromosome Location	chr6:4868783-4868784
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4866751..4869142-chr6:4872380..4874648,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1016877	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11967994	0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs11968021	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1265332	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265333	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265334	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1265335	0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17138856	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs184588	0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1891045	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2179270	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs233476	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3748078	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4960046	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62386574	0.82[EUR][1000 genomes]
rs62386576	0.83[EUR][1000 genomes]
rs62386577	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62386591	0.81[EUR][1000 genomes]
rs62386593	0.86[EUR][1000 genomes]
rs62386594	0.86[EUR][1000 genomes]
rs62386612	0.87[EUR][1000 genomes]
rs62386614	0.89[EUR][1000 genomes]
rs73362560	0.83[EUR][1000 genomes]
rs808598	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808600	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs808606	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808607	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808608	0.89[EUR][1000 genomes]
rs808635	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504254	0.86[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:4854600-4871200	Weak transcription	NH-A	brain
5	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
6	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:4859000-4876600	Weak transcription	Ovary	ovary
9	chr6:4859600-4870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:4859600-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:4859600-4871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:4859800-4870800	Weak transcription	NHEK	skin
13	chr6:4859800-4871000	Weak transcription	HMEC	breast
14	chr6:4859800-4871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:4860200-4870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4861800-4871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:4861800-4872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:4862200-4871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:4862400-4872000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:4865000-4870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:4865400-4871200	Weak transcription	K562	blood
22	chr6:4865600-4875000	Weak transcription	Aorta	Aorta
23	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:4865800-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:4865800-4871400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:4866600-4880200	Weak transcription	HSMM	muscle
27	chr6:4868400-4870800	Weak transcription	Hela-S3	cervix
28	chr6:4868400-4871400	Weak transcription	A549	lung
29	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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