Variant report

Variant	rs1600794
Chromosome Location	chr8:130765535-130765536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:130765264-130766107	K562	blood:	n/a	chr8:130765794-130765809
2	POLR2A	chr8:130765477-130765547	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr8:130765346-130766162	K562	blood:	n/a	n/a
4	CHD2	chr8:130765301-130765598	Hela-S3	cervix:	n/a	n/a
5	IRF1	chr8:130765385-130765580	K562	blood:	n/a	n/a
6	MAFK	chr8:130765520-130765979	Hela-S3	cervix:	n/a	chr8:130765794-130765809
7	USF2	chr8:130765207-130765580	Hela-S3	cervix:	n/a	chr8:130765379-130765390
8	IRF1	chr8:130765430-130765910	K562	blood:	n/a	n/a
9	USF1	chr8:130765123-130765562	K562	blood:	n/a	n/a
10	MAFF	chr8:130765534-130765995	K562	blood:	n/a	chr8:130765793-130765811
11	CEBPB	chr8:130765137-130765947	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
GSDMC	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10090835	1.00[ASW][hapmap]
rs10092357	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104476	0.81[EUR][1000 genomes]
rs10110842	0.84[EUR][1000 genomes]
rs10111157	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217049	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956493	1.00[CHB][hapmap]
rs11777392	0.93[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1481753	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1600932	1.00[CHB][hapmap]
rs1600933	1.00[CHB][hapmap]
rs1600934	1.00[CHB][hapmap]
rs17190932	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1842793	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1967019	1.00[CHB][hapmap]
rs2086639	0.93[ASN][1000 genomes]
rs2086640	0.93[ASN][1000 genomes]
rs2101163	0.93[ASN][1000 genomes]
rs2624801	0.86[ASN][1000 genomes]
rs28558572	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855534	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28892959	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298621	1.00[CHB][hapmap]
rs298622	1.00[CHB][hapmap]
rs298623	0.80[ASN][1000 genomes]
rs3885952	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3963418	0.93[ASN][1000 genomes]
rs4385436	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501554	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4606023	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733558	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733730	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733731	0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733735	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733736	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55654760	0.86[ASN][1000 genomes]
rs59192669	0.93[ASN][1000 genomes]
rs60977383	0.93[ASN][1000 genomes]
rs61071273	0.93[ASN][1000 genomes]
rs62523852	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523855	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523857	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7461495	0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967974	1.00[CHB][hapmap];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130759200-130765800	Strong transcription	NHEK	skin
3	chr8:130759800-130765800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130760200-130765800	Strong transcription	Esophagus	oesophagus
5	chr8:130763400-130766200	Enhancers	Left Ventricle	heart
6	chr8:130763600-130766200	Enhancers	Liver	Liver
7	chr8:130763800-130765800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:130764000-130765800	Strong transcription	Spleen	Spleen
9	chr8:130764000-130766000	Enhancers	Fetal Heart	heart
10	chr8:130764000-130766200	Enhancers	Right Ventricle	heart
11	chr8:130764000-130766200	Enhancers	A549	lung
12	chr8:130764200-130766400	Enhancers	Hela-S3	cervix
13	chr8:130764200-130766600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:130764200-130766800	Enhancers	Stomach Smooth Muscle	stomach
15	chr8:130764400-130765600	Weak transcription	Lung	lung
16	chr8:130764400-130765800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:130764400-130766000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:130764400-130766200	Enhancers	K562	blood
19	chr8:130764400-130766600	Enhancers	Fetal Muscle Leg	muscle
20	chr8:130764600-130765800	Enhancers	Brain Anterior Caudate	brain
21	chr8:130764600-130766000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:130764600-130766200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:130764800-130765800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:130764800-130765800	Weak transcription	Psoas Muscle	Psoas
25	chr8:130765000-130766000	Enhancers	HSMMtube	muscle
26	chr8:130765000-130767000	Enhancers	HMEC	breast
27	chr8:130765200-130765600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:130765200-130766400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:130765400-130765600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:130765400-130765800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:130765400-130765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:130765400-130766000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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