Variant report

Variant	rs16897061
Chromosome Location	chr8:99532578-99532579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99531565..99534005-chr8:99535385..99538546,3	K562	blood:
2	chr8:99522560..99525164-chr8:99531282..99533245,2	K562	blood:
3	chr8:99526234..99527955-chr8:99531276..99533264,2	MCF-7	breast:
4	chr8:99531201..99534381-chr8:99534640..99537501,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10086870	0.92[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs10099978	0.96[CEU][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10100346	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs10100378	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10100546	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10100577	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10101919	0.83[JPT][hapmap]
rs10111264	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10441501	0.87[TSI][hapmap]
rs10755897	0.83[GIH][hapmap]
rs10955176	0.92[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs10955177	0.83[JPT][hapmap]
rs10955178	0.81[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs10955180	0.83[JPT][hapmap]
rs10955181	0.83[JPT][hapmap]
rs10955184	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955185	0.96[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955186	0.82[JPT][hapmap]
rs10955187	0.82[JPT][hapmap]
rs11781352	0.85[EUR][1000 genomes]
rs11985382	0.96[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12056323	0.83[CEU][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes]
rs12541026	0.96[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12542022	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542069	0.82[JPT][hapmap]
rs12542931	0.95[CEU][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12544768	0.96[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12547297	0.84[ASW][hapmap]
rs12547922	0.96[CEU][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12548477	0.96[CEU][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12549563	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12549803	0.84[ASW][hapmap]
rs12550198	0.96[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13257475	0.82[JPT][hapmap]
rs16892236	0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16897076	0.82[JPT][hapmap];0.83[MEX][hapmap]
rs3802198	0.96[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4130753	0.84[TSI][hapmap]
rs4236853	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4301421	0.96[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4332102	0.96[CEU][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4370499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4388428	0.84[TSI][hapmap]
rs4442112	1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes]
rs4618666	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734407	0.96[CEU][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4735564	0.83[CEU][hapmap];0.86[TSI][hapmap]
rs4735568	0.82[JPT][hapmap]
rs4995528	0.87[TSI][hapmap]
rs6651181	0.82[JPT][hapmap]
rs7007360	0.87[TSI][hapmap]
rs7011763	0.82[TSI][hapmap]
rs7015739	0.96[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7016626	1.00[JPT][hapmap]
rs7815227	0.83[JPT][hapmap]
rs7845395	0.96[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9642951	0.85[EUR][1000 genomes]
rs9656842	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16897061	OSR2	cis	cerebellum	SCAN
rs16897061	NACAP1	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
2	chr8:99490400-99547600	Weak transcription	Ovary	ovary
3	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
4	chr8:99503200-99536200	Weak transcription	Liver	Liver
5	chr8:99504600-99536200	Weak transcription	Fetal Lung	lung
6	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
9	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:99519000-99543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
15	chr8:99519600-99536200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:99520200-99535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:99520600-99536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:99523400-99536800	Weak transcription	NHEK	skin
19	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
20	chr8:99526000-99543200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:99526400-99538800	Weak transcription	K562	blood
23	chr8:99526600-99536200	Weak transcription	Left Ventricle	heart
24	chr8:99527400-99536200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:99527800-99536600	Weak transcription	Dnd41	blood
26	chr8:99529000-99536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:99530000-99533200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:99530200-99533400	Enhancers	Fetal Brain Male	brain
29	chr8:99530200-99536200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:99530600-99533400	Enhancers	NHDF-Ad	bronchial
31	chr8:99531000-99569600	Weak transcription	HMEC	breast
32	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:99531400-99536200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:99531400-99543200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:99531400-99586400	Weak transcription	HSMM	muscle
36	chr8:99531600-99532600	Weak transcription	Brain Angular Gyrus	brain
37	chr8:99531600-99540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:99531600-99542800	Weak transcription	Fetal Kidney	kidney
39	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
40	chr8:99531800-99532800	Weak transcription	Fetal Brain Female	brain
41	chr8:99531800-99536400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:99532000-99533000	Weak transcription	NHLF	lung
43	chr8:99532000-99542600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:99532000-99543000	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:99532000-99543600	Weak transcription	Psoas Muscle	Psoas
46	chr8:99532000-99548000	Weak transcription	HSMMtube	muscle
47	chr8:99532200-99536200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:99532200-99542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:99532400-99533400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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