Variant report

Variant	rs17431748
Chromosome Location	chr8:119090347-119090348
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119089659..119092466-chr8:119095796..119097306,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11562721	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431728	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431757	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17451050	1.00[CHB][hapmap]
rs17454120	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1870100	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838643	1.00[ASN][1000 genomes]
rs7843725	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
3	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
4	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
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
3	chr8:119078000-119099000	Weak transcription	Dnd41	blood
4	chr8:119078400-119091600	Weak transcription	Gastric	stomach
5	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119085200-119091600	Weak transcription	HSMM	muscle
7	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
8	chr8:119087000-119090800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:119087200-119091000	Weak transcription	Fetal Intestine Large	intestine
10	chr8:119087200-119093200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:119087400-119090600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:119087400-119094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:119087600-119091600	Weak transcription	Small Intestine	intestine
14	chr8:119087600-119093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:119087600-119094800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:119087600-119095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119087600-119099200	Weak transcription	Pancreas	Pancrea
18	chr8:119087600-119101800	Weak transcription	Fetal Thymus	thymus
19	chr8:119087800-119090400	Weak transcription	HUVEC	blood vessel
20	chr8:119087800-119090600	Weak transcription	NHEK	skin
21	chr8:119087800-119091400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:119087800-119091600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:119087800-119096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:119087800-119098600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:119088000-119091400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:119088000-119091400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:119088000-119098400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:119088000-119100200	Weak transcription	Aorta	Aorta
29	chr8:119088200-119090600	Weak transcription	HepG2	liver
30	chr8:119088200-119091600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:119088200-119092200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:119088200-119096600	Weak transcription	Left Ventricle	heart
33	chr8:119088200-119102000	Weak transcription	Lung	lung
34	chr8:119088200-119102000	Weak transcription	Right Ventricle	heart
35	chr8:119088400-119090800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:119088600-119091600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:119088600-119091600	Weak transcription	Fetal Kidney	kidney
38	chr8:119088600-119093000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:119088800-119099200	Weak transcription	Psoas Muscle	Psoas
40	chr8:119089000-119090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:119089200-119093200	Enhancers	Hela-S3	cervix
42	chr8:119089200-119100400	Weak transcription	Fetal Stomach	stomach
43	chr8:119089600-119090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:119089600-119090400	Weak transcription	Placenta	Placenta
45	chr8:119089600-119090600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:119089600-119091400	Enhancers	NHLF	lung
47	chr8:119089600-119092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:119089600-119092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:119089600-119097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:119089600-119098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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