Variant report

Variant	rs17431429
Chromosome Location	chr8:119038454-119038455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17430140	1.00[AFR][1000 genomes]
rs17430645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17430666	1.00[AMR][1000 genomes]
rs17430673	1.00[AMR][1000 genomes]
rs17430755	1.00[AMR][1000 genomes]
rs17430819	1.00[AMR][1000 genomes]
rs17431166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17431208	1.00[AMR][1000 genomes]
rs17431249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17453105	1.00[AMR][1000 genomes]
rs17453112	1.00[AMR][1000 genomes]
rs17453133	1.00[AMR][1000 genomes]
rs17453784	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28357283	1.00[AMR][1000 genomes]
rs28357284	1.00[AMR][1000 genomes]
rs56660440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62532663	1.00[AFR][1000 genomes]
rs7843728	1.00[AMR][1000 genomes]
rs7843780	1.00[AMR][1000 genomes]
rs7844054	1.00[AMR][1000 genomes]
rs7844255	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119030000-119040600	Enhancers	Fetal Intestine Small	intestine
2	chr8:119032400-119043200	Weak transcription	GM12878-XiMat	blood
3	chr8:119033200-119040200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:119035000-119039000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119035000-119039200	Enhancers	Duodenum Mucosa	Duodenum
6	chr8:119035000-119040000	Enhancers	NHDF-Ad	bronchial
7	chr8:119035000-119040200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:119035000-119044600	Enhancers	Liver	Liver
9	chr8:119035200-119038600	Enhancers	Adipose Nuclei	Adipose
10	chr8:119035200-119038600	Enhancers	Fetal Kidney	kidney
11	chr8:119035200-119038600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:119035200-119038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:119035200-119039200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:119035200-119040400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:119035400-119038600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:119035400-119038600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:119035400-119040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:119035600-119038600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:119035600-119039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:119035600-119039400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:119035600-119039400	Enhancers	HMEC	breast
22	chr8:119035600-119040600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:119035600-119040800	Enhancers	Small Intestine	intestine
24	chr8:119035600-119044200	Enhancers	HepG2	liver
25	chr8:119035800-119040000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:119035800-119040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:119035800-119040400	Enhancers	Fetal Lung	lung
28	chr8:119036000-119039000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:119036000-119040000	Enhancers	Fetal Muscle Leg	muscle
30	chr8:119036000-119040200	Enhancers	Aorta	Aorta
31	chr8:119036000-119040600	Enhancers	Right Ventricle	heart
32	chr8:119036200-119040200	Enhancers	Hela-S3	cervix
33	chr8:119036400-119042800	Weak transcription	Esophagus	oesophagus
34	chr8:119036600-119046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:119036800-119039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:119037000-119039200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:119037000-119039200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:119037000-119039400	Enhancers	Psoas Muscle	Psoas
39	chr8:119037000-119040200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:119037000-119040600	Enhancers	Left Ventricle	heart
41	chr8:119037000-119040600	Enhancers	Stomach Mucosa	stomach
42	chr8:119037200-119039200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:119037200-119039600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:119037200-119046600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:119037400-119039400	Enhancers	Lung	lung
46	chr8:119037400-119040600	Enhancers	Fetal Intestine Large	intestine
47	chr8:119037400-119040600	Enhancers	Right Atrium	heart
48	chr8:119037400-119040800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:119037400-119040800	Enhancers	Pancreas	Pancrea
50	chr8:119037400-119041800	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links