Variant report

Variant	rs847848
Chromosome Location	chr6:34906168-34906169
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:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1051115	0.89[YRI][hapmap]
rs10947536	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs12212217	0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap]
rs12661991	0.80[ASN][1000 genomes]
rs13191009	0.84[ASN][1000 genomes]
rs13191889	0.81[JPT][hapmap]
rs13218101	0.88[ASN][1000 genomes]
rs13219624	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1535001	0.85[GIH][hapmap]
rs1555107	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs16896390	0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs1737727	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2140418	0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap]
rs2177381	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs2273006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293242	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs2473613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504162	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2504168	0.80[ASN][1000 genomes]
rs2985	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3734262	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs3800451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4432973	0.80[ASN][1000 genomes]
rs4646933	0.89[YRI][hapmap]
rs4646940	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646944	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457797	0.88[LWK][hapmap];0.89[YRI][hapmap]
rs6457799	0.82[MEX][hapmap]
rs6905468	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6907619	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6918183	0.87[ASN][1000 genomes]
rs6918872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6932857	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs6941065	0.86[LWK][hapmap];0.84[MKK][hapmap]
rs7739385	0.89[YRI][hapmap]
rs7739991	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753949	0.80[GIH][hapmap]
rs7757211	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7759369	0.80[ASN][1000 genomes]
rs820078	0.81[JPT][hapmap]
rs820079	0.80[JPT][hapmap]
rs820084	0.81[JPT][hapmap]
rs820097	0.81[JPT][hapmap]
rs847845	0.82[MEX][hapmap]
rs847846	0.85[GIH][hapmap]
rs847847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9357188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368834	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9368836	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9394252	0.92[AMR][1000 genomes];0.90[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs847848	TAF11	cis	lymphoblastoid	seeQTL

Chromatin state (count:49 , 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	chr6:34903000-34907600	Weak transcription	Placenta	Placenta
20	chr6:34903000-34907600	Weak transcription	K562	blood
21	chr6:34903000-34907800	Weak transcription	Aorta	Aorta
22	chr6:34903000-34911200	Weak transcription	Fetal Thymus	thymus
23	chr6:34903200-34906200	Weak transcription	Lung	lung
24	chr6:34903200-34906200	Weak transcription	Right Atrium	heart
25	chr6:34903200-34907000	Weak transcription	Fetal Intestine Large	intestine
26	chr6:34903200-34907800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:34903200-34909400	Weak transcription	Psoas Muscle	Psoas
28	chr6:34903200-34910800	Weak transcription	Right Ventricle	heart
29	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:34903400-34907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:34903400-34907600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:34903400-34907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:34903400-34907800	Weak transcription	Fetal Stomach	stomach
35	chr6:34903400-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:34903600-34907400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:34905200-34906200	Enhancers	Brain Hippocampus Middle	brain
40	chr6:34905200-34908200	Enhancers	Liver	Liver
41	chr6:34905200-34908200	Enhancers	Ovary	ovary
42	chr6:34905400-34906600	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:34905400-34917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:34905400-34917000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:34905600-34906200	Enhancers	Adipose Nuclei	Adipose
46	chr6:34905800-34906200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr6:34905800-34906200	Enhancers	Stomach Mucosa	stomach
48	chr6:34905800-34907000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:34905800-34907800	Enhancers	Left Ventricle	heart

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