Variant report

Variant	rs17476728
Chromosome Location	chr8:119057057-119057058
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	chr8:119056176..119058888-chr8:119122445..119124077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10087091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111055	1.00[AMR][1000 genomes]
rs10505326	1.00[JPT][hapmap]
rs11562686	0.85[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11562698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11562758	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11562761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476324	1.00[AMR][1000 genomes]
rs17480096	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17504939	1.00[AMR][1000 genomes]
rs17505121	1.00[AMR][1000 genomes]
rs7017817	0.89[EUR][1000 genomes];0.95[ASN][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	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
6	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
3	chr8:119047600-119059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
5	chr8:119049000-119058600	Weak transcription	NH-A	brain
6	chr8:119049200-119058400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:119049200-119058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:119049400-119057800	Enhancers	Liver	Liver
9	chr8:119049400-119059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:119049600-119058400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119049600-119059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
13	chr8:119049800-119058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:119049800-119058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:119049800-119060000	Weak transcription	HSMM	muscle
16	chr8:119050000-119060400	Weak transcription	A549	lung
17	chr8:119050400-119058400	Weak transcription	Pancreas	Pancrea
18	chr8:119051000-119059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:119051200-119058600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:119051200-119058600	Weak transcription	NHLF	lung
22	chr8:119053000-119059800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:119053400-119058400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:119053600-119057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:119053800-119059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:119054600-119058400	Weak transcription	Lung	lung
27	chr8:119054800-119058400	Weak transcription	Ovary	ovary
28	chr8:119055200-119059000	Weak transcription	Osteobl	bone
29	chr8:119055200-119059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:119055200-119065400	Weak transcription	HepG2	liver
32	chr8:119055400-119058400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:119055400-119059200	Weak transcription	Small Intestine	intestine
34	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
36	chr8:119055600-119057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:119055600-119058200	Weak transcription	Left Ventricle	heart
38	chr8:119055600-119060600	Weak transcription	NHEK	skin
39	chr8:119055800-119060400	Weak transcription	HMEC	breast
40	chr8:119055800-119061000	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:119056000-119058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:119056000-119058400	Weak transcription	Aorta	Aorta
43	chr8:119056000-119058600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:119056000-119058600	Weak transcription	Psoas Muscle	Psoas
45	chr8:119056000-119058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:119056000-119059600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:119056000-119060000	Weak transcription	NHDF-Ad	bronchial
48	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
49	chr8:119056200-119058000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:119056200-119059600	Weak transcription	Fetal Heart	heart

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