Variant report

Variant	rs11777392
Chromosome Location	chr8:130714155-130714156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:128747612..128750139-chr8:130714073..130716567,2	K562	blood:
2	chr8:130711772..130714340-chr8:130717144..130719006,2	K562	blood:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10092357	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10110842	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10111157	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10217049	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481753	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1600794	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]
rs28558572	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28855534	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28892959	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3885952	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4385436	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4501554	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733558	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4733559	0.93[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4733730	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733731	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733735	0.87[EUR][1000 genomes]
rs55654760	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62523852	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62523855	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62523857	0.87[EUR][1000 genomes]
rs7461495	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297800	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710400-130715400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130710800-130719800	Weak transcription	NHLF	lung
10	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
11	chr8:130711400-130716000	Weak transcription	A549	lung
12	chr8:130713200-130714600	Enhancers	Fetal Lung	lung
13	chr8:130713200-130714600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:130713200-130714600	Enhancers	Fetal Stomach	stomach
15	chr8:130713200-130714600	Enhancers	K562	blood
16	chr8:130713400-130714600	Enhancers	Placenta	Placenta
17	chr8:130713600-130714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:130713600-130714400	Enhancers	Fetal Kidney	kidney
19	chr8:130713600-130714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:130713600-130714600	Enhancers	Ovary	ovary
21	chr8:130713800-130714200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130713800-130714200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:130713800-130714600	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:130714000-130714400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:130714000-130714600	Enhancers	HSMM	muscle

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