Variant report

Variant	rs17430930
Chromosome Location	chr8:118960031-118960032
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	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11562671	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11562687	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562703	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562737	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562738	1.00[EUR][1000 genomes]
rs11562774	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562775	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562776	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562821	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562822	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562823	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17430645	1.00[CEU][hapmap]
rs17430721	1.00[CEU][hapmap]
rs17430755	1.00[CEU][hapmap]
rs17430819	1.00[CEU][hapmap]
rs17430965	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17431118	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17431152	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17431166	1.00[CEU][hapmap]
rs17431208	1.00[CEU][hapmap]
rs17431215	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17431249	1.00[CEU][hapmap]
rs17453105	1.00[CEU][hapmap]
rs17453344	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17453357	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453448	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17453602	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17453651	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17453672	0.93[EUR][1000 genomes]
rs17475946	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476226	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17476233	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17476254	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17476296	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17504988	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2086008	0.86[EUR][1000 genomes]
rs2086009	0.86[EUR][1000 genomes]
rs28357284	1.00[CEU][hapmap]
rs4480147	0.87[EUR][1000 genomes]
rs57858101	0.93[EUR][1000 genomes]
rs59628055	0.94[EUR][1000 genomes]
rs60822517	0.94[EUR][1000 genomes]
rs61601333	0.93[EUR][1000 genomes]
rs7004615	0.87[EUR][1000 genomes]
rs7843728	1.00[CEU][hapmap]
rs7843780	1.00[CEU][hapmap]
rs7844054	1.00[CEU][hapmap]
rs7844255	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
2	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
3	chr8:118950600-118960600	Weak transcription	Ovary	ovary
4	chr8:118954800-118962200	Weak transcription	Right Atrium	heart
5	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
6	chr8:118957800-118961200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:118958000-118963400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:118958400-118960200	Enhancers	Stomach Mucosa	stomach
9	chr8:118958400-118960200	Flanking Active TSS	NHEK	skin
10	chr8:118958400-118961200	Enhancers	Fetal Lung	lung
11	chr8:118958600-118960200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:118958600-118960200	Flanking Active TSS	Liver	Liver
13	chr8:118958600-118960400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:118958600-118960600	Enhancers	Brain Germinal Matrix	brain
15	chr8:118958600-118961000	Enhancers	Fetal Heart	heart
16	chr8:118958600-118962000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:118958800-118960200	Flanking Active TSS	HMEC	breast
18	chr8:118958800-118960600	Enhancers	Colonic Mucosa	Colon
19	chr8:118958800-118960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:118958800-118961000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:118959000-118960600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:118959000-118960800	Enhancers	Colon Smooth Muscle	Colon
23	chr8:118959000-118961200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:118959000-118961400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:118959000-118961400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:118959000-118961400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:118959000-118966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:118959000-118967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:118959000-118967800	Weak transcription	Lung	lung
30	chr8:118959000-118968000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:118959200-118960200	Enhancers	Fetal Stomach	stomach
32	chr8:118959200-118960600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:118959200-118960600	Enhancers	Fetal Kidney	kidney
34	chr8:118959200-118961000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:118959200-118961000	Flanking Active TSS	A549	lung
36	chr8:118959200-118961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:118959200-118961200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:118959200-118961600	Enhancers	Fetal Intestine Large	intestine
39	chr8:118959200-118962000	Enhancers	Osteobl	bone
40	chr8:118959200-118962200	Weak transcription	Aorta	Aorta
41	chr8:118959200-118968000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:118959400-118960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:118959400-118961200	Enhancers	Fetal Intestine Small	intestine
44	chr8:118959400-118961200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:118959400-118961400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:118959400-118961400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:118959400-118968400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:118959400-118968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:118959600-118960200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:118959600-118960200	Enhancers	Brain Angular Gyrus	brain

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