Variant report

Variant	rs11994015
Chromosome Location	chr8:119345115-119345116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119344779..119346281-chr8:119346898..119348552,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13248150	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13275560	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1485895	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062425	0.96[ASN][1000 genomes]
rs2062426	0.96[ASN][1000 genomes]
rs4579562	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58783663	0.80[EUR][1000 genomes]
rs6469734	0.87[EUR][1000 genomes]
rs67368455	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980537	0.87[EUR][1000 genomes]
rs6994128	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994270	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996602	0.87[EUR][1000 genomes]
rs7008611	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018387	0.83[EUR][1000 genomes]
rs73323697	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827787	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7829943	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs7831174	0.87[EUR][1000 genomes]
rs7832024	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297582	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
2	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
4	chr8:119330800-119361000	Weak transcription	Pancreas	Pancrea
5	chr8:119336000-119345200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:119338000-119348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:119343600-119346400	Enhancers	NHDF-Ad	bronchial
8	chr8:119343800-119346200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:119343800-119346200	Enhancers	NHLF	lung
10	chr8:119344000-119366000	Weak transcription	Gastric	stomach
11	chr8:119344200-119346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119344200-119346200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:119344400-119345800	Enhancers	A549	lung
14	chr8:119344400-119346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119344600-119345400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:119344600-119345400	Flanking Active TSS	HUVEC	blood vessel
17	chr8:119344600-119345600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:119344600-119345600	Flanking Active TSS	NH-A	brain
19	chr8:119344600-119345600	Flanking Active TSS	Osteobl	bone
20	chr8:119344600-119345800	Enhancers	HSMMtube	muscle
21	chr8:119344600-119345800	Flanking Active TSS	NHEK	skin
22	chr8:119344600-119346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:119344600-119346200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:119344600-119346200	Enhancers	Spleen	Spleen
25	chr8:119344600-119346200	Enhancers	HMEC	breast
26	chr8:119344800-119345200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:119344800-119345600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:119344800-119345600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:119344800-119345600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:119344800-119345600	Enhancers	Adipose Nuclei	Adipose
31	chr8:119344800-119345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:119344800-119345800	Enhancers	Placenta	Placenta
33	chr8:119344800-119346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:119344800-119346200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:119344800-119346200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:119344800-119346200	Enhancers	Right Atrium	heart
37	chr8:119345000-119345400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:119345000-119345600	Enhancers	Hela-S3	cervix
39	chr8:119345000-119351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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