Variant report

Variant	rs4251966
Chromosome Location	chr2:113874792-113874793
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	chr2:113874258..113877773-chr2:113883397..113886122,3	MCF-7	breast:
2	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction

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

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

rs_ID	r²[population]
rs4252005	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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv979338	chr2:113869830-113880320	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874895	chr2:113870663-113875892	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv874896	chr2:113874122-113875892	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:113871400-113874800	Enhancers	NHEK	skin
3	chr2:113871400-113875000	Bivalent Enhancer	HepG2	liver
4	chr2:113871400-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113871600-113875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:113871800-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113872600-113875600	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:113872800-113874800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:113872800-113875000	Enhancers	Primary T cells from cord blood	blood
10	chr2:113872800-113875000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:113873000-113874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:113873000-113874800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:113873000-113874800	Enhancers	Fetal Thymus	thymus
14	chr2:113873000-113875200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:113873000-113875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:113873000-113875400	Enhancers	Stomach Mucosa	stomach
17	chr2:113873000-113875600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:113873000-113875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:113873200-113874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:113873200-113874800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:113873200-113874800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:113873200-113875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113873200-113875400	Enhancers	Spleen	Spleen
24	chr2:113873200-113876000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:113873400-113874800	Enhancers	Primary B cells from cord blood	blood
26	chr2:113873400-113875000	Weak transcription	Lung	lung
27	chr2:113873400-113875600	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:113873600-113875400	Weak transcription	Placenta	Placenta
29	chr2:113873600-113876000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:113873600-113876000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:113874000-113875600	Enhancers	HMEC	breast
32	chr2:113874200-113876000	Enhancers	NHDF-Ad	bronchial
33	chr2:113874200-113877200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:113874400-113875000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr2:113874400-113875000	Enhancers	Colonic Mucosa	Colon
36	chr2:113874400-113875000	Flanking Active TSS	Esophagus	oesophagus
37	chr2:113874400-113875600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:113874400-113875800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:113874400-113875800	Enhancers	Fetal Muscle Leg	muscle
40	chr2:113874400-113877000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:113874600-113874800	Enhancers	Gastric	stomach
42	chr2:113874600-113875000	Enhancers	Small Intestine	intestine
43	chr2:113874600-113875800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:113874600-113876000	Enhancers	K562	blood
45	chr2:113874600-113877600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:113874600-113878400	Weak transcription	GM12878-XiMat	blood

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