Variant report

Variant	rs17476380
Chromosome Location	chr8:119022093-119022094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476623	1.00[AMR][1000 genomes]
rs17476700	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505304	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505513	1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[AMR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28445582	1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	1.00[AMR][1000 genomes]
rs57174831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs61306907	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704842	1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AMR][1000 genomes]
rs73704897	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
5	chr8:119016200-119026000	Enhancers	Liver	Liver
6	chr8:119016800-119023200	Enhancers	NHDF-Ad	bronchial
7	chr8:119017600-119022800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:119017800-119022800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:119017800-119022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:119018000-119033200	Weak transcription	Spleen	Spleen
11	chr8:119018200-119023000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:119019000-119023000	Genic enhancers	Osteobl	bone
13	chr8:119019600-119022400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:119020000-119023200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119020000-119023200	Enhancers	NH-A	brain
16	chr8:119020000-119023800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:119020000-119024800	Enhancers	Adipose Nuclei	Adipose
18	chr8:119020000-119025600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:119020200-119022400	Enhancers	Placenta	Placenta
20	chr8:119020200-119023000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:119020200-119023600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:119020200-119025200	Enhancers	Left Ventricle	heart
23	chr8:119020200-119026000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:119020400-119022800	Enhancers	NHLF	lung
25	chr8:119020400-119024600	Enhancers	Right Ventricle	heart
26	chr8:119020600-119025200	Enhancers	Fetal Heart	heart
27	chr8:119020600-119025400	Enhancers	HSMM	muscle
28	chr8:119020600-119025600	Enhancers	Right Atrium	heart
29	chr8:119020800-119024800	Enhancers	Fetal Lung	lung
30	chr8:119021000-119022800	Enhancers	NHEK	skin
31	chr8:119021000-119023400	Enhancers	HUVEC	blood vessel
32	chr8:119021000-119024800	Enhancers	HSMMtube	muscle
33	chr8:119021000-119026000	Enhancers	Hela-S3	cervix
34	chr8:119021200-119022200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:119021200-119022200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:119021200-119022200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:119021200-119022200	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:119021200-119022200	Enhancers	Fetal Muscle Leg	muscle
39	chr8:119021200-119022200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:119021200-119022200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:119021200-119022400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:119021200-119022400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:119021200-119022400	Enhancers	Colon Smooth Muscle	Colon
44	chr8:119021200-119023200	Enhancers	HepG2	liver
45	chr8:119021200-119024800	Enhancers	Psoas Muscle	Psoas
46	chr8:119021200-119025600	Enhancers	Ovary	ovary
47	chr8:119021200-119028000	Enhancers	HMEC	breast
48	chr8:119021400-119022200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:119021400-119022200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:119021400-119022200	Enhancers	Sigmoid Colon	Sigmoid Colon

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