Variant report

Variant	rs17476233
Chromosome Location	chr8:119001417-119001418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
2	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:
3	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 72 )
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]
rs17431215	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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]
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: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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:118992800-119001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
5	chr8:118993800-119001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
7	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
8	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
9	chr8:118994600-119001800	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:118994600-119002000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:118997800-119001600	Weak transcription	Thymus	Thymus
12	chr8:118997800-119004800	Weak transcription	Fetal Thymus	thymus
13	chr8:118998000-119001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:118998400-119006800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:118998600-119006600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:118999000-119004600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:118999600-119002200	Enhancers	Esophagus	oesophagus
18	chr8:118999600-119003000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:118999600-119003000	Enhancers	Left Ventricle	heart
20	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:119000000-119002200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:119000000-119006400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:119000200-119002200	Enhancers	NHEK	skin
24	chr8:119000200-119002600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:119000200-119003600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:119000600-119001600	Enhancers	Osteobl	bone
27	chr8:119000600-119002200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:119000600-119003000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:119000600-119003000	Enhancers	Right Atrium	heart
30	chr8:119000600-119003200	Enhancers	Small Intestine	intestine
31	chr8:119000600-119003200	Enhancers	NHDF-Ad	bronchial
32	chr8:119000800-119001600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:119000800-119001600	Enhancers	GM12878-XiMat	blood
34	chr8:119000800-119001800	Enhancers	Gastric	stomach
35	chr8:119000800-119002000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:119000800-119002200	Flanking Active TSS	Liver	Liver
37	chr8:119000800-119002400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:119000800-119002600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:119000800-119002800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:119000800-119002800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:119000800-119002800	Enhancers	Aorta	Aorta
42	chr8:119000800-119002800	Enhancers	Colonic Mucosa	Colon
43	chr8:119000800-119003000	Enhancers	Placenta	Placenta
44	chr8:119000800-119003000	Enhancers	Spleen	Spleen
45	chr8:119000800-119003200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:119000800-119003200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:119000800-119003400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:119000800-119003400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:119000800-119003400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:119000800-119003400	Enhancers	Lung	lung

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