Variant report

Variant	rs4331047
Chromosome Location	chr11:47599714-47599715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47598947-47601303	HepG2	liver:	n/a	n/a
2	USF2	chr11:47599554-47600649	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:47599006-47600895	SK-N-SH	brain:	n/a	n/a
4	SREBP2	chr11:47599390-47601051	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:47599160-47599744	GM12892	blood:	n/a	n/a
6	MXI1	chr11:47599391-47601719	IMR90	lung:	n/a	chr11:47600255-47600270 chr11:47600242-47600257 chr11:47600257-47600272
7	POLR2A	chr11:47598830-47601048	GM12892	blood:	n/a	n/a
8	NFATC1	chr11:47599633-47600900	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:47598869-47601028	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:47599575-47600886	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:47598877-47599757	K562	blood:	n/a	n/a
12	POLR2A	chr11:47599630-47600817	HCT-116	colon:	n/a	n/a
13	MTA3	chr11:47599633-47601001	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:47599050-47601299	H1-hESC	embryonic stem cell:	n/a	n/a
15	ESRRA	chr11:47599599-47601509	GM12878	blood:	n/a	chr11:47600581-47600593 chr11:47600950-47600966
16	POLR2A	chr11:47598953-47600906	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:47599543-47601162	GM12891	blood:	n/a	n/a
18	HCFC1	chr11:47598483-47602649	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:47598523-47600847	K562	blood:	n/a	n/a
20	POLR2A	chr11:47599603-47599740	K562	blood:	n/a	n/a
21	POLR2A	chr11:47599418-47599754	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:47599465-47599725	HCT-116	colon:	n/a	n/a
23	POLR2A	chr11:47598834-47599807	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:47598850-47599729	HL-60	blood:	n/a	n/a
25	POLR2A	chr11:47599181-47599752	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:47598802-47599812	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:47598785-47599744	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:47598789-47601117	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:47599488-47599767	K562	blood:	n/a	n/a
30	POLR2A	chr11:47598891-47601054	Hela-S3	cervix:	n/a	n/a
31	REST	chr11:47599638-47601307	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr11:47598895-47599837	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:47598854-47601282	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr11:47598733-47601797	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
2	chr11:47574450..47575951-chr11:47599292..47600981,2	MCF-7	breast:
3	chr11:47599594..47601938-chr11:47869864..47871887,2	K562	blood:
4	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
5	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
6	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
7	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
8	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
9	chr11:47597275..47600063-chr11:47600255..47602444,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFS3	TF binding region
RNU5E-10P	TF binding region
ENSG00000213619	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000030066	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000123444	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10769293	1.00[MEX][hapmap]
rs10838735	1.00[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12286241	1.00[MKK][hapmap]
rs12289442	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs2233354	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256934	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418760	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4486587	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4498952	0.82[AFR][1000 genomes]
rs4623856	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs4752863	1.00[MEX][hapmap]
rs6416137	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103351	0.88[AFR][1000 genomes]
rs7105845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106293	0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119578	0.91[AFR][1000 genomes]
rs7129821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941173	0.96[AFR][1000 genomes]
rs7949024	1.00[AFR][1000 genomes]

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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47595400-47599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:47595400-47599800	Weak transcription	Aorta	Aorta
5	chr11:47595600-47599800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:47598000-47599800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:47598600-47599800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:47598600-47599800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:47598600-47599800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:47598800-47599800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr11:47598800-47599800	Genic enhancers	Right Atrium	heart
12	chr11:47598800-47599800	Genic enhancers	Thymus	Thymus
13	chr11:47598800-47599800	Transcr. at gene 5' and 3'	K562	blood
14	chr11:47598800-47600000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr11:47598800-47600000	Flanking Active TSS	HMEC	breast
16	chr11:47598800-47600000	Flanking Active TSS	Osteobl	bone
17	chr11:47598800-47600200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:47598800-47600200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:47599000-47599800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47599000-47599800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:47599000-47599800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr11:47599000-47599800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:47599000-47599800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:47599000-47599800	Flanking Active TSS	Fetal Brain Female	brain
25	chr11:47599000-47599800	Genic enhancers	Fetal Stomach	stomach
26	chr11:47599000-47599800	Enhancers	Ovary	ovary
27	chr11:47599000-47599800	Enhancers	Pancreas	Pancrea
28	chr11:47599000-47599800	Enhancers	Small Intestine	intestine
29	chr11:47599000-47599800	Transcr. at gene 5' and 3'	NHLF	lung
30	chr11:47599000-47600000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:47599000-47600000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47599000-47600000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:47599000-47600000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr11:47599000-47600200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:47599000-47600200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:47599000-47601200	Active TSS	Fetal Kidney	kidney
37	chr11:47599200-47599800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:47599200-47599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:47599200-47599800	Enhancers	Gastric	stomach
40	chr11:47599200-47599800	Enhancers	Left Ventricle	heart
41	chr11:47599200-47599800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr11:47599200-47600000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:47599200-47600000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47599200-47600000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr11:47599200-47600000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr11:47599200-47600000	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:47599200-47600200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:47599200-47600400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr11:47599400-47599800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:47599400-47599800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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