Variant report

Variant	rs11125089
Chromosome Location	chr2:47008263-47008264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47005678..47008315-chr2:47011541..47013639,2	MCF-7	breast:
2	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
3	chr2:46872190..46873901-chr2:47005919..47008590,2	K562	blood:
4	chr2:46842690..46844852-chr2:47008012..47010268,2	MCF-7	breast:
5	chr2:46884105..46884773-chr2:47008041..47008619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151665	Chromatin interaction
ENSG00000119878	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11125091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6718658	0.85[JPT][hapmap]
rs6756738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47001000-47008600	Enhancers	Osteobl	bone
2	chr2:47005000-47008600	Enhancers	HepG2	liver
3	chr2:47005200-47009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:47005200-47010000	Enhancers	Fetal Lung	lung
5	chr2:47005400-47009200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:47005400-47009200	Enhancers	NHLF	lung
7	chr2:47005400-47009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:47005400-47012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:47005600-47009400	Enhancers	Fetal Heart	heart
10	chr2:47005600-47009400	Enhancers	NHDF-Ad	bronchial
11	chr2:47005600-47010000	Enhancers	Left Ventricle	heart
12	chr2:47005800-47008400	Enhancers	NH-A	brain
13	chr2:47005800-47009000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:47005800-47009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:47005800-47009800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:47006000-47008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:47006200-47008600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47006400-47008400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:47006400-47009000	Enhancers	Stomach Mucosa	stomach
20	chr2:47006400-47009800	Enhancers	Fetal Stomach	stomach
21	chr2:47006400-47009800	Enhancers	Right Ventricle	heart
22	chr2:47006600-47009200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:47006600-47009200	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:47006600-47009400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:47006600-47009800	Enhancers	Fetal Muscle Leg	muscle
26	chr2:47006600-47009800	Enhancers	Lung	lung
27	chr2:47006600-47009800	Enhancers	Right Atrium	heart
28	chr2:47006800-47009400	Enhancers	Adipose Nuclei	Adipose
29	chr2:47006800-47009400	Enhancers	Placenta	Placenta
30	chr2:47006800-47009800	Enhancers	Spleen	Spleen
31	chr2:47006800-47010000	Enhancers	Psoas Muscle	Psoas
32	chr2:47006800-47010000	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:47007000-47009600	Enhancers	Ovary	ovary
34	chr2:47007000-47009600	Weak transcription	Pancreas	Pancrea
35	chr2:47007200-47008400	Enhancers	Aorta	Aorta
36	chr2:47007200-47008400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:47007200-47008800	Enhancers	Brain Hippocampus Middle	brain
38	chr2:47007200-47009000	Enhancers	Brain Substantia Nigra	brain
39	chr2:47007400-47008600	Enhancers	Brain Anterior Caudate	brain
40	chr2:47007400-47008600	Enhancers	Fetal Brain Male	brain
41	chr2:47007400-47008600	Weak transcription	Small Intestine	intestine
42	chr2:47007400-47008800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:47007400-47008800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:47007400-47010000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:47007600-47008400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:47007600-47008400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:47007600-47008400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr2:47007600-47009000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:47007800-47008400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:47008000-47008400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links