Variant report

Variant	rs17453427
Chromosome Location	chr8:118971340-118971341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56844743	0.83[AFR][1000 genomes]
rs57399568	1.00[AFR][1000 genomes]
rs60553718	0.83[AFR][1000 genomes]
rs61016956	1.00[AFR][1000 genomes]
rs72673976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323905	0.83[AFR][1000 genomes]
rs73323906	0.83[AFR][1000 genomes]
rs73323916	1.00[AFR][1000 genomes]
rs73323935	1.00[AFR][1000 genomes]
rs73323942	1.00[AFR][1000 genomes]
rs73323945	1.00[AFR][1000 genomes]
rs73323948	1.00[AFR][1000 genomes]
rs73323954	1.00[AFR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
3	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
4	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:118968200-118971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:118969000-118971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:118969200-118971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:118969400-118971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:118969600-118971400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:118969800-118971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:118969800-118971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:118969800-118971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:118969800-118971400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:118969800-118986800	Weak transcription	Lung	lung
24	chr8:118970000-118971400	Weak transcription	Left Ventricle	heart
25	chr8:118970000-118971400	Weak transcription	Ovary	ovary
26	chr8:118970000-118971800	Enhancers	Fetal Intestine Small	intestine
27	chr8:118970000-118971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:118970000-118972200	Enhancers	NHLF	lung
29	chr8:118970000-118973000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:118970000-118973000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:118970000-118973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
33	chr8:118970200-118971600	Enhancers	HepG2	liver
34	chr8:118970200-118971600	Enhancers	Osteobl	bone
35	chr8:118970200-118972200	Enhancers	NHEK	skin
36	chr8:118970200-118973000	Weak transcription	HMEC	breast
37	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:118970400-118971400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:118970400-118971400	Weak transcription	NH-A	brain
40	chr8:118970400-118972200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:118970400-118972200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:118970400-118972600	Weak transcription	A549	lung
43	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
44	chr8:118970600-118971400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:118970600-118972000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:118970600-118972200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:118970600-118972600	Weak transcription	Liver	Liver
48	chr8:118970600-118972800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:118970600-118973000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:118970600-118973000	Weak transcription	Adipose Nuclei	Adipose

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