Variant report

Variant	rs6551247
Chromosome Location	chr3:28314082-28314083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1058569	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs11129315	0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs11129316	0.90[ASN][1000 genomes]
rs11926578	0.92[ASN][1000 genomes]
rs12631257	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1609729	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs3752876	0.87[ASN][1000 genomes]
rs4680747	0.83[ASN][1000 genomes]
rs4680907	0.88[ASN][1000 genomes]
rs6551248	0.91[ASN][1000 genomes]
rs6551253	0.81[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[YRI][hapmap]
rs6789421	0.81[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs6791550	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7611318	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs7612033	0.81[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7613767	0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7621688	0.88[ASN][1000 genomes]
rs9831010	0.90[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.89[MKK][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6551247	OSBPL10	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28284000-28317200	Weak transcription	Gastric	stomach
2	chr3:28284400-28321800	Weak transcription	NHLF	lung
3	chr3:28285600-28315400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:28287600-28317000	Weak transcription	Pancreas	Pancrea
5	chr3:28294200-28314400	Weak transcription	HepG2	liver
6	chr3:28294400-28314200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:28294800-28316400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:28295600-28318200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:28303000-28314600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:28303000-28316800	Weak transcription	Right Ventricle	heart
11	chr3:28303400-28322200	Weak transcription	Small Intestine	intestine
12	chr3:28303600-28340600	Weak transcription	NHEK	skin
13	chr3:28303800-28320800	Weak transcription	Placenta	Placenta
14	chr3:28304200-28332400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:28305600-28322600	Weak transcription	Osteobl	bone
16	chr3:28306200-28316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:28306400-28332400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
19	chr3:28307400-28317400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:28307600-28314600	Weak transcription	A549	lung
21	chr3:28307600-28317000	Weak transcription	Fetal Thymus	thymus
22	chr3:28308600-28315200	Weak transcription	K562	blood
23	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
24	chr3:28309400-28317000	Weak transcription	HSMM	muscle
25	chr3:28309600-28317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:28310000-28314800	Weak transcription	Fetal Heart	heart
27	chr3:28310000-28317000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:28310400-28321200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:28311000-28315600	ZNF genes & repeats	Dnd41	blood
30	chr3:28311200-28317200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:28311400-28314200	Strong transcription	Primary T cells from cord blood	blood
32	chr3:28311400-28319000	Weak transcription	Spleen	Spleen
33	chr3:28311600-28317000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:28311600-28317000	Weak transcription	Aorta	Aorta
35	chr3:28311600-28317000	Weak transcription	Esophagus	oesophagus
36	chr3:28311600-28319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:28312600-28315000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:28312600-28316800	ZNF genes & repeats	Fetal Lung	lung
39	chr3:28312800-28314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:28313000-28315800	Strong transcription	Fetal Kidney	kidney
41	chr3:28313400-28315200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:28313400-28322800	Weak transcription	Colonic Mucosa	Colon
43	chr3:28313600-28314400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:28313600-28314800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr3:28313600-28315600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:28313600-28315600	ZNF genes & repeats	Liver	Liver
47	chr3:28313600-28315800	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr3:28313600-28316200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:28313600-28316200	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr3:28313600-28316400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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