Variant report

Variant	rs57952819
Chromosome Location	chr6:164001970-164001971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164001758..164003357-chr6:164013083..164015410,2	K562	blood:
2	chr6:163999887..164002454-chr6:164029460..164032387,2	K562	blood:
3	chr6:163834825..163838285-chr6:164001689..164007516,7	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10484571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11962850	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964510	1.00[AMR][1000 genomes]
rs11964910	1.00[AMR][1000 genomes]
rs11965425	0.85[AFR][1000 genomes]
rs11965709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966919	1.00[AMR][1000 genomes]
rs11966922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888837	1.00[AMR][1000 genomes]
rs16895001	1.00[AMR][1000 genomes]
rs16895012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895056	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895066	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3903714	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56702350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57292071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57394768	1.00[AMR][1000 genomes]
rs59845233	1.00[AMR][1000 genomes]
rs60965967	1.00[AMR][1000 genomes]
rs61306342	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62428365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6937286	1.00[AMR][1000 genomes]
rs73784410	1.00[AMR][1000 genomes]
rs73784416	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787643	1.00[AMR][1000 genomes]
rs73787648	1.00[AMR][1000 genomes]
rs73787650	1.00[AMR][1000 genomes]
rs7754815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755028	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
2	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
3	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
4	chr6:163992200-164002000	Weak transcription	Ovary	ovary
5	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
8	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:163992400-164007800	Weak transcription	Lung	lung
11	chr6:163994000-164004800	Weak transcription	HepG2	liver
12	chr6:163994000-164007200	Weak transcription	NHLF	lung
13	chr6:163994200-164006400	Weak transcription	A549	lung
14	chr6:163994200-164006400	Weak transcription	HUVEC	blood vessel
15	chr6:163994400-164006600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:163995200-164007200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:163995600-164003400	Weak transcription	Psoas Muscle	Psoas
18	chr6:163995600-164006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:163996200-164007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:163996200-164007200	Weak transcription	NHDF-Ad	bronchial
21	chr6:163996600-164002000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:163996800-164002200	Enhancers	Brain Anterior Caudate	brain
23	chr6:163997600-164006400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:163998000-164006200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:163998200-164010800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:163998400-164007800	Enhancers	Brain Hippocampus Middle	brain
27	chr6:163998800-164003800	Enhancers	Fetal Heart	heart
28	chr6:163998800-164009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:163999600-164002200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:163999800-164004800	Enhancers	Brain Substantia Nigra	brain
31	chr6:164000000-164002000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:164000000-164002000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:164000000-164002400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:164000000-164006600	Weak transcription	HSMM	muscle
35	chr6:164000400-164007200	Weak transcription	HSMMtube	muscle
36	chr6:164000600-164006200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:164000600-164007200	Weak transcription	Right Ventricle	heart
38	chr6:164000600-164007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:164001000-164003400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:164001000-164003600	Enhancers	Brain Angular Gyrus	brain
41	chr6:164001200-164002800	Enhancers	K562	blood
42	chr6:164001200-164004800	Weak transcription	Left Ventricle	heart
43	chr6:164001600-164002600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:164001600-164002600	Weak transcription	Brain Germinal Matrix	brain
45	chr6:164001600-164005400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:164001600-164006400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:164001600-164006800	Weak transcription	Adipose Nuclei	Adipose
48	chr6:164001800-164002200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:164001800-164006800	Weak transcription	Brain Inferior Temporal Lobe	brain

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