Variant report

Variant	rs17151190
Chromosome Location	chr8:9996705-9996706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10107485	0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs11249969	0.82[CHB][hapmap]
rs1160369	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs11774411	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11783851	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11785434	0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11785454	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11998591	0.84[CHD][hapmap]
rs12542030	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12545469	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12545775	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12545788	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12545826	0.82[CHB][hapmap]
rs12547884	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549943	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12550244	0.83[CHB][hapmap]
rs12674871	0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12680389	0.87[CHB][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13249013	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[ASN][1000 genomes]
rs13256357	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1466555	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1484645	1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564808	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17151108	0.81[CHD][hapmap]
rs17151142	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17151193	0.82[CHD][hapmap]
rs17151201	0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17155393	0.87[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1984863	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1994223	0.81[CHD][hapmap]
rs2016221	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898242	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3735823	0.82[CHB][hapmap]
rs4294187	0.83[CHB][hapmap]
rs4840463	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs4841279	0.87[CHB][hapmap]
rs4841283	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62488714	0.80[ASN][1000 genomes]
rs66602888	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983566	0.82[CHB][hapmap]
rs6985791	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7008407	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7008695	0.83[ASN][1000 genomes]
rs7012601	0.88[ASN][1000 genomes]
rs7016690	0.88[ASN][1000 genomes]
rs72626643	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830843	0.90[ASN][1000 genomes]
rs7843906	0.81[CHD][hapmap]
rs9329215	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9644681	0.83[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17151190	KLHDC7B	trans	cerebellum	SCAN
rs17151190	AGPAT5	cis	cerebellum	SCAN
rs17151190	CLDN23	cis	multi-tissue	Pritchard
rs17151190	DLC1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:9991200-9997600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:9991200-10004600	Weak transcription	Esophagus	oesophagus
6	chr8:9992000-9997400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:9992200-10004800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:9992200-10004800	Weak transcription	Right Ventricle	heart
9	chr8:9992400-10000600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:9992600-10000600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:9995000-9996800	Enhancers	Fetal Intestine Large	intestine
12	chr8:9995000-9998600	Enhancers	Adipose Nuclei	Adipose
13	chr8:9995000-10000600	Enhancers	Fetal Brain Male	brain
14	chr8:9995200-9996800	Enhancers	Brain Germinal Matrix	brain
15	chr8:9995200-9997800	Enhancers	Fetal Intestine Small	intestine
16	chr8:9995400-9996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:9995400-9996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:9995600-9996800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:9995800-9996800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr8:9995800-9996800	Enhancers	Fetal Heart	heart
21	chr8:9995800-9996800	Enhancers	Hela-S3	cervix
22	chr8:9995800-9997000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:9995800-9997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:9996200-9996800	Enhancers	Brain Hippocampus Middle	brain
25	chr8:9996400-9997400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:9996400-10020200	Weak transcription	Pancreas	Pancrea
27	chr8:9996600-9996800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:9996600-9997000	Enhancers	Fetal Brain Female	brain
29	chr8:9996600-9997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:9996600-9997200	Enhancers	Liver	Liver
31	chr8:9996600-9997600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:9996600-9997600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:9996600-9997800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:9996600-9998800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:9996600-9998800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:9996600-9999800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:9996600-10000000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:9996600-10000000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:9996600-10000600	Weak transcription	Brain Angular Gyrus	brain
40	chr8:9996600-10004600	Weak transcription	Gastric	stomach
41	chr8:9996600-10004800	Weak transcription	Left Ventricle	heart
42	chr8:9996600-10005000	Weak transcription	Right Atrium	heart
43	chr8:9996600-10036200	Weak transcription	Primary T cells from cord blood	blood

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