Variant report

Variant	rs847851
Chromosome Location	chr6:34904584-34904585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34891666..34893180-chr6:34904331..34907073,2	K562	blood:
2	chr6:34904349..34905899-chr6:34908056..34909609,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10947536	0.84[GIH][hapmap]
rs11969436	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1535001	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1737727	0.84[GIH][hapmap]
rs1996912	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2140418	0.84[GIH][hapmap]
rs2177381	0.84[GIH][hapmap]
rs2293242	0.84[GIH][hapmap]
rs2473615	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2820232	0.90[JPT][hapmap]
rs2820233	0.90[JPT][hapmap]
rs2820237	0.83[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs3817473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823438	0.94[CHD][hapmap];0.90[JPT][hapmap]
rs4646926	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912327	0.86[CEU][hapmap]
rs7753949	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs847846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847852	0.88[CHD][hapmap]
rs847858	0.85[JPT][hapmap]
rs847859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9394248	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs847851	PRDM7	trans	multi-tissue	Pritchard
rs847851	TAF11	cis	lymphoblastoid	seeQTL
rs847851	UHRF1BP1	cis	Artery Tibial	GTEx
rs847851	TAF11	cis	cerebellum	SCAN
rs847851	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs847851	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs847851	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs847851	UHRF1BP1	cis	parietal	SCAN
rs847851	TAF11	cis	parietal	SCAN
rs847851	C6orf89	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
3	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:34894600-34907200	Weak transcription	HepG2	liver
7	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
8	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34898200-34908000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34901600-34907600	Enhancers	Fetal Heart	heart
15	chr6:34902200-34909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:34902400-34915200	Weak transcription	NHEK	skin
17	chr6:34902400-34915400	Weak transcription	HMEC	breast
18	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
19	chr6:34902800-34904600	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:34902800-34905200	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:34903000-34905600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:34903000-34907600	Weak transcription	Placenta	Placenta
23	chr6:34903000-34907600	Weak transcription	K562	blood
24	chr6:34903000-34907800	Weak transcription	Aorta	Aorta
25	chr6:34903000-34911200	Weak transcription	Fetal Thymus	thymus
26	chr6:34903200-34905200	Weak transcription	Liver	Liver
27	chr6:34903200-34905200	Weak transcription	Left Ventricle	heart
28	chr6:34903200-34905200	Weak transcription	Ovary	ovary
29	chr6:34903200-34905800	Weak transcription	Stomach Mucosa	stomach
30	chr6:34903200-34906200	Weak transcription	Lung	lung
31	chr6:34903200-34906200	Weak transcription	Right Atrium	heart
32	chr6:34903200-34907000	Weak transcription	Fetal Intestine Large	intestine
33	chr6:34903200-34907800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:34903200-34909400	Weak transcription	Psoas Muscle	Psoas
35	chr6:34903200-34910800	Weak transcription	Right Ventricle	heart
36	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:34903400-34907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:34903400-34907600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:34903400-34907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:34903400-34907800	Weak transcription	Fetal Stomach	stomach
42	chr6:34903400-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:34903600-34905200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:34903600-34907400	Weak transcription	Monocytes-CD14+_RO01746	blood

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