Variant report

Variant	rs2043737
Chromosome Location	chr2:113291679-113291680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113290591..113292898-chr2:113348416..113351140,2	K562	blood:
2	chr2:113237305..113239187-chr2:113290058..113292165,2	K562	blood:
3	chr2:113290805..113292665-chr2:113298151..113300715,2	MCF-7	breast:
4	chr2:113289821..113292124-chr2:113297499..113299657,2	K562	blood:
5	chr2:113291521..113293955-chr2:113328145..113330168,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

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

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

rs_ID	r²[population]
rs3961916	0.89[AFR][1000 genomes]
rs4849070	0.83[AFR][1000 genomes]
rs6718503	0.88[AFR][1000 genomes]
rs7506	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7564182	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
2	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
3	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:113279000-113299200	Weak transcription	Psoas Muscle	Psoas
5	chr2:113281200-113299000	Weak transcription	Colonic Mucosa	Colon
6	chr2:113286000-113292200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:113286000-113292200	Strong transcription	Fetal Brain Female	brain
8	chr2:113286200-113292200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:113287000-113298800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:113287000-113298800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:113287000-113299000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:113287000-113299000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:113287200-113298800	Weak transcription	Fetal Brain Male	brain
14	chr2:113287200-113298800	Weak transcription	Pancreas	Pancrea
15	chr2:113287200-113299000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:113287400-113298800	Weak transcription	Hela-S3	cervix
17	chr2:113287600-113298600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:113287600-113299000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:113287800-113298800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:113287800-113298800	Weak transcription	Fetal Intestine Large	intestine
21	chr2:113287800-113299000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:113287800-113299000	Weak transcription	Liver	Liver
23	chr2:113287800-113299400	Weak transcription	Spleen	Spleen
24	chr2:113288000-113298600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:113288000-113299000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:113288200-113298400	Weak transcription	GM12878-XiMat	blood
27	chr2:113288200-113298600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:113288200-113298800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:113288200-113299000	Weak transcription	Right Ventricle	heart
30	chr2:113288200-113299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:113288400-113299000	Weak transcription	Placenta	Placenta
32	chr2:113288800-113298200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:113288800-113299000	Weak transcription	Fetal Lung	lung
34	chr2:113288800-113299200	Weak transcription	Esophagus	oesophagus
35	chr2:113288800-113299200	Weak transcription	Gastric	stomach
36	chr2:113289000-113299000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:113289200-113299000	Weak transcription	Fetal Kidney	kidney
38	chr2:113289400-113298600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:113289400-113299000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:113289600-113298800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:113289600-113299000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:113289800-113293600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:113289800-113298600	Weak transcription	K562	blood
44	chr2:113289800-113298800	Weak transcription	Aorta	Aorta
45	chr2:113289800-113299000	Weak transcription	NHDF-Ad	bronchial
46	chr2:113289800-113299200	Weak transcription	Ovary	ovary
47	chr2:113290000-113298400	Weak transcription	Primary B cells from cord blood	blood
48	chr2:113290000-113298800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:113290000-113298800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:113290000-113298800	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links