Variant report

Variant	rs6798
Chromosome Location	chr11:45904477-45904478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45904372-45904661	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45904367-45904725	K562	blood:	n/a	n/a
3	POLR2A	chr11:45904449-45904676	K562	blood:	n/a	n/a
4	POLR2A	chr11:45902825-45907143	K562	blood:	n/a	n/a
5	POLR2A	chr11:45904307-45904640	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45872396..45874327-chr11:45903903..45905625,2	K562	blood:
2	chr11:45869749..45872196-chr11:45903148..45905376,2	K562	blood:
3	chr11:45902565..45904520-chr11:45956645..45959558,2	K562	blood:
4	chr11:45904326..45907019-chr11:45920750..45923690,3	MCF-7	breast:
5	chr11:45896206..45898084-chr11:45902278..45904901,2	MCF-7	breast:
6	chr11:45904421..45905932-chr11:45912544..45914291,2	MCF-7	breast:
7	chr11:45869438..45872196-chr11:45903876..45906831,3	K562	blood:
8	chr11:45903829..45906224-chr11:45943432..45945936,3	K562	blood:

No data

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000135365	Chromatin interaction
ENSG00000121653	Chromatin interaction
ENSG00000165905	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10742769	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs10838521	0.82[GIH][hapmap]
rs11038693	0.97[ASN][1000 genomes]
rs1533614	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2056260	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2090602	0.82[GIH][hapmap]
rs2292913	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.97[ASN][1000 genomes]
rs2666890	1.00[ASW][hapmap]
rs3824872	0.84[CHD][hapmap]
rs4755344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4755345	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4756035	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[ASN][1000 genomes]
rs4756039	0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57989022	0.96[ASN][1000 genomes]
rs7115967	1.00[ASW][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7943306	0.85[TSI][hapmap]
rs9666007	0.96[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
2	chr11:45876800-45904600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:45880200-45904600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:45880600-45904600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:45881200-45905200	Strong transcription	Fetal Intestine Large	intestine
6	chr11:45882000-45904800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:45882600-45905200	Strong transcription	Liver	Liver
8	chr11:45883800-45905000	Strong transcription	Placenta	Placenta
9	chr11:45885800-45906400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:45893000-45906800	Weak transcription	HSMM	muscle
11	chr11:45893200-45906600	Weak transcription	Small Intestine	intestine
12	chr11:45895000-45907200	Weak transcription	HUVEC	blood vessel
13	chr11:45895400-45906800	Weak transcription	NH-A	brain
14	chr11:45896600-45904600	Strong transcription	Fetal Brain Female	brain
15	chr11:45898600-45906200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:45898600-45906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:45898600-45906800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:45898600-45906800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:45898800-45906400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:45898800-45906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:45898800-45907200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:45899400-45906600	Weak transcription	GM12878-XiMat	blood
23	chr11:45899800-45906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:45900200-45904600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:45900200-45906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:45900400-45906600	Weak transcription	HepG2	liver
27	chr11:45901000-45904600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:45901000-45904600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:45901000-45904600	Strong transcription	Spleen	Spleen
30	chr11:45901000-45904800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:45901000-45905000	Strong transcription	Brain Germinal Matrix	brain
32	chr11:45901000-45905400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:45901400-45904600	Strong transcription	Thymus	Thymus
34	chr11:45901400-45906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:45901600-45904600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:45901800-45906600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:45901800-45906800	Weak transcription	NHEK	skin
38	chr11:45902000-45904600	Strong transcription	Esophagus	oesophagus
39	chr11:45902000-45904600	Strong transcription	Pancreas	Pancrea
40	chr11:45902000-45904800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:45902000-45905000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:45902200-45904600	Strong transcription	Ovary	ovary
43	chr11:45902200-45906600	Weak transcription	Hela-S3	cervix
44	chr11:45902200-45906800	Weak transcription	HMEC	breast
45	chr11:45902400-45904600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:45902400-45904600	ZNF genes & repeats	Lung	lung
47	chr11:45902400-45905600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:45902400-45906800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:45902600-45904600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr11:45902600-45906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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