Variant report

Variant	rs12613156
Chromosome Location	chr2:113387987-113387988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113386067..113388065-chr2:113482724..113484459,2	MCF-7	breast:
2	chr2:113347066..113349613-chr2:113387380..113389746,2	K562	blood:
3	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction
ENSG00000228251	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11900874	1.00[ASN][1000 genomes]
rs57561330	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60064657	0.94[ASN][1000 genomes]
rs60653302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760091	1.00[EUR][1000 genomes];0.97[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	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:113381600-113389600	Enhancers	Placenta	Placenta
7	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113384600-113388000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:113384600-113388000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:113384600-113388000	Weak transcription	Left Ventricle	heart
11	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
12	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113384800-113388200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:113384800-113388600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:113384800-113388600	Weak transcription	Lung	lung
17	chr2:113384800-113389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:113384800-113389200	Weak transcription	Fetal Brain Female	brain
19	chr2:113385000-113388000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:113385000-113388000	Weak transcription	Aorta	Aorta
21	chr2:113385000-113388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
24	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
25	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
26	chr2:113385200-113388000	Weak transcription	Spleen	Spleen
27	chr2:113385200-113388000	Enhancers	A549	lung
28	chr2:113385200-113388200	Enhancers	Osteobl	bone
29	chr2:113385200-113388600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:113385200-113388600	Enhancers	NH-A	brain
31	chr2:113385200-113390600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:113385400-113388000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:113385400-113388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:113385400-113389400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:113385600-113388400	Enhancers	HSMM	muscle
36	chr2:113385600-113388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:113385800-113388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:113385800-113388000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:113385800-113388000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:113385800-113388200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:113385800-113388200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:113385800-113388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:113385800-113389200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:113385800-113389400	Enhancers	NHEK	skin
45	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:113386000-113388000	Weak transcription	Primary B cells from cord blood	blood
47	chr2:113386000-113388400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:113386000-113388600	Weak transcription	Right Atrium	heart
49	chr2:113386000-113388600	Weak transcription	Small Intestine	intestine
50	chr2:113386600-113388000	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links