Variant report

Variant	rs17431118
Chromosome Location	chr8:118993144-118993145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
2	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11562671	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11562687	0.93[EUR][1000 genomes]
rs11562703	0.87[EUR][1000 genomes]
rs11562737	0.87[EUR][1000 genomes]
rs11562738	0.93[EUR][1000 genomes]
rs11562774	0.87[EUR][1000 genomes]
rs11562775	0.87[EUR][1000 genomes]
rs11562776	0.87[EUR][1000 genomes]
rs11562821	0.87[EUR][1000 genomes]
rs11562822	0.87[EUR][1000 genomes]
rs11562823	0.93[EUR][1000 genomes]
rs17430930	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17430965	0.87[EUR][1000 genomes]
rs17431152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453344	0.93[EUR][1000 genomes]
rs17453357	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17453448	0.87[EUR][1000 genomes]
rs17453567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17453602	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475946	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17476226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476233	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476254	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476282	0.85[EUR][1000 genomes]
rs17476296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4480147	0.80[EUR][1000 genomes]
rs57858101	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59628055	0.87[EUR][1000 genomes]
rs60822517	0.87[EUR][1000 genomes]
rs61601333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004615	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118982000-118993800	Weak transcription	Gastric	stomach
3	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
4	chr8:118984200-118993600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:118987000-118993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:118987600-118994200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:118989600-118994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118989600-118994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:118989800-118993400	Enhancers	GM12878-XiMat	blood
11	chr8:118989800-118994200	Enhancers	Fetal Stomach	stomach
12	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:118990800-118994600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:118991200-118993200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:118991200-118994600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:118991400-118993600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:118991400-118996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:118991600-118993800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:118991800-118994600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:118992000-118993200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118992000-118993600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:118992000-118994000	Enhancers	HSMM	muscle
24	chr8:118992000-118994400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:118992200-118993200	Enhancers	Fetal Intestine Small	intestine
26	chr8:118992200-118993200	Enhancers	Fetal Kidney	kidney
27	chr8:118992200-118993200	Enhancers	Lung	lung
28	chr8:118992200-118993200	Enhancers	Spleen	Spleen
29	chr8:118992200-118993400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:118992200-118993600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:118992200-118993600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr8:118992200-118993600	Enhancers	HSMMtube	muscle
33	chr8:118992200-118993800	Enhancers	Fetal Heart	heart
34	chr8:118992200-118994600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:118992200-118994600	Enhancers	Aorta	Aorta
36	chr8:118992400-118993200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:118992400-118993200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:118992400-118993200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:118992400-118993200	Enhancers	Placenta	Placenta
40	chr8:118992400-118993200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:118992400-118993200	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:118992400-118993400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:118992400-118993800	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:118992400-118993800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr8:118992400-118994000	Enhancers	Ovary	ovary
46	chr8:118992400-118994600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:118992400-118994600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:118992400-118994800	Enhancers	Left Ventricle	heart
49	chr8:118992600-118993200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:118992600-118993200	Enhancers	Fetal Brain Male	brain

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