Variant report

Variant	rs11741263
Chromosome Location	chr5:17221087-17221088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:17217589-17221710	GM12878	blood:	n/a	n/a
2	YY1	chr5:17220765-17221094	GM12892	blood:	n/a	n/a
3	CEBPB	chr5:17220789-17221129	A549	lung:	n/a	chr5:17221071-17221084 chr5:17220893-17220904 chr5:17221073-17221084 chr5:17221073-17221084 chr5:17220934-17220945 chr5:17220932-17220943
4	REST	chr5:17215249-17221561	H1-neurons	neurons:	n/a	chr5:17217790-17217803
5	POLR2A	chr5:17217582-17221092	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:17220792-17221143	Hela-S3	cervix:	n/a	chr5:17221071-17221084 chr5:17220893-17220904 chr5:17221073-17221084 chr5:17221073-17221084 chr5:17220934-17220945 chr5:17220932-17220943

No.	Distal block	Cell Line	Cell type
1	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
2	chr5:17219335..17222848-chr5:17226972..17230280,3	MCF-7	breast:
3	chr5:17220654..17223998-chr5:17311743..17315157,3	MCF-7	breast:
4	chr5:17220220..17221881-chr5:17313520..17315021,2	MCF-7	breast:
5	chr5:17219030..17221287-chr5:18110895..18114151,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215196	TF binding region
ENSG00000185296	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13153680	1.00[AFR][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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv521697	chr5:17211649-17225333	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv597312	chr5:17214901-17225333	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
2	chr5:17218800-17225400	Transcr. at gene 5' and 3'	A549	lung
3	chr5:17219600-17222000	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:17219600-17222200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:17219600-17222200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:17219600-17222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:17219600-17222400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:17219600-17223600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:17219600-17223800	Weak transcription	Ovary	ovary
10	chr5:17219600-17225200	Weak transcription	Fetal Stomach	stomach
11	chr5:17219800-17221400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:17219800-17221800	Strong transcription	HSMM	muscle
13	chr5:17219800-17222200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:17219800-17222400	Weak transcription	HSMMtube	muscle
15	chr5:17219800-17222600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:17219800-17223200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:17219800-17223200	Weak transcription	HMEC	breast
18	chr5:17219800-17223600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:17219800-17231800	Weak transcription	Fetal Kidney	kidney
20	chr5:17219800-17233600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:17220000-17221800	Weak transcription	Aorta	Aorta
22	chr5:17220000-17222000	Genic enhancers	Osteobl	bone
23	chr5:17220000-17222200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:17220000-17222200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:17220000-17222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:17220000-17222400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:17220000-17222400	Weak transcription	Fetal Lung	lung
28	chr5:17220000-17222400	Weak transcription	Placenta	Placenta
29	chr5:17220200-17221200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:17220200-17222200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:17220200-17225400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:17220200-17225400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:17220400-17221200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:17220400-17221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:17220400-17222400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:17220400-17222400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:17220400-17222400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:17220400-17222600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:17220400-17222600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:17220400-17223000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:17220400-17223000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:17220400-17223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:17220400-17225000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:17220400-17225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:17220400-17229400	Weak transcription	Brain Anterior Caudate	brain
46	chr5:17220600-17221400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:17220600-17221400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr5:17220600-17221400	Flanking Active TSS	GM12878-XiMat	blood
49	chr5:17220600-17221400	Enhancers	HUVEC	blood vessel
50	chr5:17220600-17221600	Enhancers	Primary hematopoietic stem cells	blood

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