Variant report

Variant	rs847847
Chromosome Location	chr6:34908015-34908016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10947536	0.80[ASN][1000 genomes]
rs12661991	0.80[ASN][1000 genomes]
rs13191009	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13218101	0.88[ASN][1000 genomes]
rs13219624	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1555107	0.88[ASN][1000 genomes]
rs1737727	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2177381	0.80[ASN][1000 genomes]
rs2273006	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293242	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2473613	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504162	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2504168	0.80[ASN][1000 genomes]
rs2985	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3734262	0.88[ASN][1000 genomes]
rs3800451	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4432973	0.80[ASN][1000 genomes]
rs4646940	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646944	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6905468	0.89[ASN][1000 genomes]
rs6907619	0.89[ASN][1000 genomes]
rs6918183	0.87[ASN][1000 genomes]
rs6918872	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6932857	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7739991	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7757211	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7759369	0.80[ASN][1000 genomes]
rs847848	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296139	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9357188	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368834	0.88[ASN][1000 genomes]
rs9368836	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9394252	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9784818	0.80[ASN][1000 genomes]

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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
2	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:34902200-34909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:34902400-34915200	Weak transcription	NHEK	skin
10	chr6:34902400-34915400	Weak transcription	HMEC	breast
11	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
12	chr6:34903000-34911200	Weak transcription	Fetal Thymus	thymus
13	chr6:34903200-34909400	Weak transcription	Psoas Muscle	Psoas
14	chr6:34903200-34910800	Weak transcription	Right Ventricle	heart
15	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:34903400-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:34905200-34908200	Enhancers	Liver	Liver
21	chr6:34905200-34908200	Enhancers	Ovary	ovary
22	chr6:34905400-34917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34905400-34917000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:34906200-34911400	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:34906200-34921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:34907000-34908600	Enhancers	Fetal Intestine Large	intestine
27	chr6:34907200-34908200	Enhancers	Fetal Intestine Small	intestine
28	chr6:34907200-34908200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:34907200-34908400	Enhancers	HepG2	liver
30	chr6:34907400-34908200	Enhancers	HSMMtube	muscle
31	chr6:34907400-34922000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:34907400-34937600	Weak transcription	Dnd41	blood
33	chr6:34907600-34908200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:34907600-34908200	Flanking Active TSS	Fetal Heart	heart
35	chr6:34907600-34908200	Enhancers	Stomach Mucosa	stomach
36	chr6:34907600-34908200	Enhancers	K562	blood
37	chr6:34907600-34923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:34907800-34908200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:34907800-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:34907800-34908200	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:34907800-34908400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:34907800-34909200	Weak transcription	Right Atrium	heart
43	chr6:34907800-34909600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:34907800-34919600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:34907800-34921000	Weak transcription	Left Ventricle	heart
46	chr6:34907800-34922000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:34907800-34922400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:34908000-34908400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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