Variant report

Variant	rs2302153
Chromosome Location	chr2:234847823-234847824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234683624-234705119..2:234843685-234852750	Hela-S3	cervix:
2	chr2:234846587..234849218-chr2:234859033..234861096,2	MCF-7	breast:
3	2:234543708-234558325..2:234843685-234852750	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185038	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000242515	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1003540	0.89[CEU][hapmap]
rs10166942	0.89[CEU][hapmap]
rs10170399	0.90[CEU][hapmap]
rs10189040	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10490012	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11563063	0.90[CEU][hapmap]
rs11892538	0.90[CEU][hapmap]
rs13418652	0.90[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1965629	0.90[CEU][hapmap]
rs2362290	0.89[CEU][hapmap]
rs2362292	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4233636	0.90[CEU][hapmap]
rs4663986	0.90[CEU][hapmap]
rs6431648	0.89[CEU][hapmap]
rs6711120	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6738979	0.90[CEU][hapmap]
rs737636	0.90[CEU][hapmap]
rs758275	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs758276	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7604471	0.89[CEU][hapmap]
rs9646719	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9646720	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876024	chr2:234842650-234856421	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234845400-234851400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:234847400-234848000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr2:234847400-234848000	Active TSS	Brain Germinal Matrix	brain
4	chr2:234847400-234848000	Active TSS	Fetal Brain Female	brain
5	chr2:234847400-234848200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:234847400-234848200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr2:234847600-234848000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:234847600-234848000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:234847600-234848000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:234847600-234848000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:234847600-234848000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:234847600-234848000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:234847600-234848000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr2:234847600-234848000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:234847600-234848000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:234847600-234848000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:234847600-234848000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:234847600-234848000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:234847600-234848000	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr2:234847600-234848000	Flanking Active TSS	Liver	Liver
27	chr2:234847600-234848000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr2:234847600-234848000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
29	chr2:234847600-234848000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:234847600-234848000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
31	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr2:234847600-234848000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr2:234847600-234848000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:234847600-234848000	Enhancers	Gastric	stomach
35	chr2:234847600-234848000	Bivalent Enhancer	Left Ventricle	heart
36	chr2:234847600-234848000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr2:234847600-234848000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:234847600-234848000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr2:234847600-234848000	Enhancers	Spleen	Spleen
40	chr2:234847600-234848000	Bivalent/Poised TSS	HSMM	muscle
41	chr2:234847600-234848000	Bivalent/Poised TSS	HSMMtube	muscle
42	chr2:234847600-234848000	Bivalent/Poised TSS	NH-A	brain
43	chr2:234847600-234848000	Bivalent/Poised TSS	NHEK	skin
44	chr2:234847600-234848200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:234847600-234848200	Active TSS	Brain Anterior Caudate	brain
46	chr2:234847800-234848000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:234847800-234848000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr2:234847800-234848000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr2:234847800-234848000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr2:234847800-234848000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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