Variant report

Variant	rs17431215
Chromosome Location	chr8:119010990-119010991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119005711..119007230-chr8:119009334..119011314,2	MCF-7	breast:
2	chr8:119009696..119012547-chr8:119121829..119125594,3	MCF-7	breast:
3	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11562671	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11562687	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11562703	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562737	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562738	0.93[EUR][1000 genomes]
rs11562774	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562775	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562776	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562821	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562822	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562823	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17430645	1.00[CEU][hapmap]
rs17430694	0.83[YRI][hapmap]
rs17430721	1.00[CEU][hapmap]
rs17430728	0.83[YRI][hapmap]
rs17430749	1.00[YRI][hapmap]
rs17430755	1.00[CEU][hapmap]
rs17430819	1.00[CEU][hapmap]
rs17430930	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17430965	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17431118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431166	1.00[CEU][hapmap]
rs17431208	1.00[CEU][hapmap]
rs17431249	1.00[CEU][hapmap]
rs17453105	1.00[CEU][hapmap]
rs17453344	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17453357	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17453448	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17453602	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453651	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475659	0.85[YRI][hapmap]
rs17475666	1.00[YRI][hapmap]
rs17475673	1.00[YRI][hapmap]
rs17475687	0.85[YRI][hapmap]
rs17475694	0.85[YRI][hapmap]
rs17475722	0.85[YRI][hapmap]
rs17475743	0.85[YRI][hapmap]
rs17475785	0.85[YRI][hapmap]
rs17475946	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17476226	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476254	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476282	0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17476296	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504490	0.85[YRI][hapmap]
rs17504568	0.85[YRI][hapmap]
rs17504631	1.00[YRI][hapmap]
rs17504988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2086008	0.82[YRI][hapmap]
rs28357284	1.00[CEU][hapmap]
rs4480147	0.80[EUR][1000 genomes]
rs57858101	1.00[EUR][1000 genomes]
rs59628055	0.87[EUR][1000 genomes]
rs60822517	0.87[EUR][1000 genomes]
rs61601333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004615	0.80[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:7 , 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
7	nsv512063	chr8:119007302-119012733	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
2	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:119002000-119011800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:119002800-119011800	Weak transcription	Colonic Mucosa	Colon
7	chr8:119003600-119013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:119005000-119011800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:119005000-119016400	Weak transcription	Left Ventricle	heart
10	chr8:119005000-119016400	Weak transcription	Right Atrium	heart
11	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
12	chr8:119005000-119021200	Weak transcription	Gastric	stomach
13	chr8:119005200-119012600	Weak transcription	Lung	lung
14	chr8:119005200-119012600	Weak transcription	Ovary	ovary
15	chr8:119005200-119012600	Weak transcription	Pancreas	Pancrea
16	chr8:119005400-119012400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:119005800-119011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:119005800-119012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:119007200-119011400	Weak transcription	Fetal Lung	lung
20	chr8:119007600-119013600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:119007800-119012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:119007800-119012600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:119007800-119016400	Weak transcription	Psoas Muscle	Psoas
24	chr8:119008000-119011600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:119008000-119011800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:119008000-119012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:119008000-119012600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:119008200-119011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:119008200-119012400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:119008200-119012600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:119008200-119012600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:119008400-119011000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:119008400-119011600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:119008400-119016400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:119009800-119011200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:119009800-119014200	Enhancers	NHDF-Ad	bronchial
37	chr8:119010000-119011000	Enhancers	HMEC	breast
38	chr8:119010000-119011200	Enhancers	HSMM	muscle
39	chr8:119010000-119013600	Enhancers	NHLF	lung
40	chr8:119010000-119014200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:119010000-119014200	Enhancers	NH-A	brain
42	chr8:119010000-119014400	Enhancers	Osteobl	bone
43	chr8:119010400-119011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:119010600-119011000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:119010600-119011200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr8:119010600-119011200	Genic enhancers	NHEK	skin
47	chr8:119010600-119012000	Enhancers	Small Intestine	intestine
48	chr8:119010600-119012400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:119010600-119012400	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:119010600-119013000	Enhancers	Sigmoid Colon	Sigmoid Colon

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