Variant report

Variant	rs17476623
Chromosome Location	chr8:119051274-119051275
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	chr16:84130002..84131861-chr8:119050742..119052450,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10097988	1.00[AMR][1000 genomes]
rs10099089	1.00[AMR][1000 genomes]
rs17475246	1.00[AMR][1000 genomes]
rs17475939	1.00[AMR][1000 genomes]
rs17475966	1.00[AMR][1000 genomes]
rs17476338	1.00[AMR][1000 genomes]
rs17476380	1.00[AMR][1000 genomes]
rs17476700	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476924	1.00[AMR][1000 genomes]
rs17503962	1.00[AMR][1000 genomes]
rs17503990	1.00[AMR][1000 genomes]
rs17504018	1.00[AMR][1000 genomes]
rs17504736	1.00[AMR][1000 genomes]
rs17505086	1.00[AMR][1000 genomes]
rs17505304	1.00[AMR][1000 genomes]
rs17505513	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505784	0.86[AFR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28445582	1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57174831	1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs61306907	1.00[AMR][1000 genomes]
rs73704842	1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
2	chr8:119042400-119052000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:119043400-119054400	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:119043400-119054400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:119044600-119056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:119044800-119053000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:119047000-119055200	Weak transcription	Psoas Muscle	Psoas
8	chr8:119047000-119055400	Weak transcription	Fetal Heart	heart
9	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
10	chr8:119047200-119052400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
12	chr8:119047600-119052600	Weak transcription	Ovary	ovary
13	chr8:119047600-119053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:119047600-119054400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:119047600-119054400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:119047600-119059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119048000-119051400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:119048000-119051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:119048400-119055000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:119048600-119052000	Weak transcription	Fetal Lung	lung
21	chr8:119048600-119055600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
23	chr8:119049000-119058600	Weak transcription	NH-A	brain
24	chr8:119049200-119051400	Enhancers	NHEK	skin
25	chr8:119049200-119057000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:119049200-119058400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:119049200-119058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:119049400-119052400	Weak transcription	HUVEC	blood vessel
29	chr8:119049400-119057800	Enhancers	Liver	Liver
30	chr8:119049400-119059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:119049600-119052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:119049600-119058400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:119049600-119059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
35	chr8:119049800-119052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:119049800-119052600	Weak transcription	HepG2	liver
37	chr8:119049800-119054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:119049800-119054400	Weak transcription	Small Intestine	intestine
39	chr8:119049800-119058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:119049800-119058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:119049800-119060000	Weak transcription	HSMM	muscle
42	chr8:119050000-119060400	Weak transcription	A549	lung
43	chr8:119050200-119053200	Enhancers	NHDF-Ad	bronchial
44	chr8:119050400-119058400	Weak transcription	Pancreas	Pancrea
45	chr8:119050600-119051600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:119050800-119055200	Weak transcription	HMEC	breast
47	chr8:119051000-119052600	Weak transcription	Aorta	Aorta
48	chr8:119051000-119052600	Weak transcription	Right Atrium	heart
49	chr8:119051000-119055400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:119051000-119059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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