Variant report

Variant	rs140510617
Chromosome Location	chr11:47526280-47526281
allele	C/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	chr11:47526238-47526372	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:

Variant related genes	Relation type
CELF1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	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
4	esv3444665	chr11:47525601-47528351	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv512223	chr11:47525659-47528095	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3469397	chr11:47525993-47528119	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3469408	chr11:47525993-47528119	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
2	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
6	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:47515600-47528200	Weak transcription	NH-A	brain
10	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
11	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:47519200-47526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:47519200-47527000	Strong transcription	Hela-S3	cervix
14	chr11:47520000-47528200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:47520400-47528800	Weak transcription	Thymus	Thymus
16	chr11:47520400-47529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:47521200-47527000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:47521600-47528600	Weak transcription	A549	lung
19	chr11:47521600-47529800	Weak transcription	Gastric	stomach
20	chr11:47521600-47530200	Weak transcription	Right Ventricle	heart
21	chr11:47521600-47531000	Weak transcription	Lung	lung
22	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
23	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
24	chr11:47521800-47527800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:47521800-47528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:47521800-47528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:47521800-47528000	Weak transcription	Ovary	ovary
28	chr11:47521800-47528000	Weak transcription	Stomach Mucosa	stomach
29	chr11:47521800-47529000	Weak transcription	Brain Germinal Matrix	brain
30	chr11:47521800-47529200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
32	chr11:47522000-47528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:47522000-47528200	Weak transcription	NHDF-Ad	bronchial
34	chr11:47522200-47528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:47522200-47528400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:47522200-47528400	Weak transcription	HMEC	breast
37	chr11:47522400-47528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:47522400-47528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:47522400-47528800	Weak transcription	Fetal Intestine Large	intestine
40	chr11:47522600-47528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:47522600-47528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:47522800-47528000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:47522800-47528000	Weak transcription	Osteobl	bone
44	chr11:47522800-47530400	Weak transcription	HepG2	liver
45	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
46	chr11:47523000-47526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47523000-47528000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:47523000-47528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:47523000-47528000	Weak transcription	Brain Substantia Nigra	brain
50	chr11:47523000-47528000	Weak transcription	Fetal Heart	heart

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