Variant report

Variant	rs17505478
Chromosome Location	chr8:119053343-119053344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10505324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562763	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476518	1.00[AMR][1000 genomes]
rs17476693	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476791	1.00[AMR][1000 genomes]
rs17505485	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119043400-119054400	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:119043400-119054400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:119044600-119056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:119047000-119055200	Weak transcription	Psoas Muscle	Psoas
5	chr8:119047000-119055400	Weak transcription	Fetal Heart	heart
6	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
8	chr8:119047600-119054400	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:119047600-119054400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:119047600-119059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:119048400-119055000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:119048600-119055600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
14	chr8:119049000-119058600	Weak transcription	NH-A	brain
15	chr8:119049200-119057000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:119049200-119058400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:119049200-119058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:119049400-119057800	Enhancers	Liver	Liver
19	chr8:119049400-119059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:119049600-119058400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:119049600-119059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
23	chr8:119049800-119054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:119049800-119054400	Weak transcription	Small Intestine	intestine
25	chr8:119049800-119058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:119049800-119058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:119049800-119060000	Weak transcription	HSMM	muscle
28	chr8:119050000-119060400	Weak transcription	A549	lung
29	chr8:119050400-119058400	Weak transcription	Pancreas	Pancrea
30	chr8:119050800-119055200	Weak transcription	HMEC	breast
31	chr8:119051000-119055400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:119051000-119059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:119051200-119058600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:119051200-119058600	Weak transcription	NHLF	lung
36	chr8:119051400-119055000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:119051400-119055200	Weak transcription	NHEK	skin
38	chr8:119051600-119054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:119052000-119053400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:119052600-119053800	Enhancers	HepG2	liver
41	chr8:119052600-119056000	Enhancers	Aorta	Aorta
42	chr8:119052800-119053600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:119052800-119053800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:119052800-119053800	Genic enhancers	Osteobl	bone
45	chr8:119053000-119053400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:119053000-119054400	Weak transcription	Ovary	ovary
47	chr8:119053000-119054600	Weak transcription	Right Atrium	heart
48	chr8:119053000-119059800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:119053200-119054200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:119053200-119054200	Weak transcription	NHDF-Ad	bronchial

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