Variant report

Variant	rs17475246
Chromosome Location	chr8:118906622-118906623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097988	1.00[AMR][1000 genomes]
rs10099089	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475939	1.00[AMR][1000 genomes]
rs17475966	1.00[AMR][1000 genomes]
rs17476338	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs17476380	1.00[AMR][1000 genomes]
rs17476623	1.00[AMR][1000 genomes]
rs17476700	1.00[AMR][1000 genomes]
rs17476924	1.00[AMR][1000 genomes]
rs17503962	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503990	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504018	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504736	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs17505086	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs17505304	1.00[AMR][1000 genomes]
rs17505513	1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[AMR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28445582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	1.00[AMR][1000 genomes]
rs57174831	1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs61306907	1.00[AMR][1000 genomes]
rs73704842	1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AMR][1000 genomes]
rs73704897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	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	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
3	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
6	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
10	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
11	chr8:118901600-118908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:118901600-118908800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:118901600-118909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:118901800-118908600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:118903400-118907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:118903400-118907400	Enhancers	Fetal Heart	heart
17	chr8:118903800-118907400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:118903800-118907600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:118904200-118907200	Enhancers	Left Ventricle	heart
21	chr8:118904400-118907400	Enhancers	Right Ventricle	heart
22	chr8:118904400-118907400	Enhancers	NH-A	brain
23	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:118904600-118908000	Weak transcription	Brain Germinal Matrix	brain
25	chr8:118904800-118906800	Weak transcription	Lung	lung
26	chr8:118904800-118907000	Weak transcription	Liver	Liver
27	chr8:118905000-118906800	Weak transcription	Spleen	Spleen
28	chr8:118905000-118906800	Weak transcription	NHDF-Ad	bronchial
29	chr8:118905000-118907400	Enhancers	Brain Hippocampus Middle	brain
30	chr8:118905200-118908200	Weak transcription	NHEK	skin
31	chr8:118905200-118909000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:118905200-118911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:118905200-118912200	Enhancers	Fetal Lung	lung
34	chr8:118905600-118906800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:118905600-118907800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:118905600-118914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:118905800-118907000	Weak transcription	HSMMtube	muscle
38	chr8:118905800-118907400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:118905800-118908000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:118905800-118908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:118905800-118909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:118905800-118911200	Enhancers	Aorta	Aorta
43	chr8:118905800-118911600	Weak transcription	Fetal Brain Male	brain
44	chr8:118906000-118908600	Weak transcription	Stomach Mucosa	stomach
45	chr8:118906000-118909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:118906000-118910400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:118906000-118911600	Weak transcription	Fetal Brain Female	brain
48	chr8:118906000-118912200	Weak transcription	Gastric	stomach
49	chr8:118906000-118917600	Enhancers	NHLF	lung
50	chr8:118906200-118907000	Weak transcription	HSMM	muscle

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