Variant report

Variant	rs17476170
Chromosome Location	chr8:118992506-118992507
allele	A/C/G
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11562820	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17476177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476247	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505044	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505051	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
2	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:118982000-118993800	Weak transcription	Gastric	stomach
5	chr8:118983400-118993000	Weak transcription	Esophagus	oesophagus
6	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
7	chr8:118983800-118992600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:118984200-118993600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:118986600-118993000	Enhancers	NHLF	lung
10	chr8:118987000-118993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:118987400-118992600	Enhancers	Osteobl	bone
12	chr8:118987600-118994200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:118989000-118992600	Enhancers	HUVEC	blood vessel
14	chr8:118989000-118993000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:118989600-118992800	Enhancers	HMEC	breast
17	chr8:118989600-118994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:118989600-118994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:118989800-118993000	Enhancers	NHEK	skin
20	chr8:118989800-118993400	Enhancers	GM12878-XiMat	blood
21	chr8:118989800-118994200	Enhancers	Fetal Stomach	stomach
22	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:118990200-118992600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:118990200-118992600	Enhancers	Liver	Liver
25	chr8:118990400-118992800	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:118990600-118992600	Enhancers	NH-A	brain
27	chr8:118990800-118994600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:118991000-118992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:118991000-118992800	Enhancers	HepG2	liver
30	chr8:118991200-118993200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:118991200-118994600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:118991400-118992600	Enhancers	A549	lung
34	chr8:118991400-118993600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:118991400-118996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:118991600-118993800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:118991800-118994600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:118992000-118992800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:118992000-118992800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:118992000-118993000	Enhancers	Adipose Nuclei	Adipose
41	chr8:118992000-118993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:118992000-118993200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118992000-118993600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:118992000-118994000	Enhancers	HSMM	muscle
45	chr8:118992000-118994400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:118992200-118992600	Enhancers	Fetal Lung	lung
47	chr8:118992200-118992600	Enhancers	Fetal Muscle Leg	muscle
48	chr8:118992200-118992600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr8:118992200-118992800	Enhancers	Primary T cells from cord blood	blood
50	chr8:118992200-118992800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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