Variant report

Variant	rs12465241
Chromosome Location	chr2:113291385-113291386
allele	A/G
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	chr2:113289491..113291465-chr2:113300196..113302655,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153558	0.88[EUR][1000 genomes]
rs11123137	0.91[ASN][1000 genomes]
rs1127264	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899598	0.94[ASN][1000 genomes]
rs12465446	0.96[ASN][1000 genomes]
rs13030618	0.96[ASN][1000 genomes]
rs17043158	0.96[ASN][1000 genomes]
rs17043167	0.96[ASN][1000 genomes]
rs28542310	0.96[ASN][1000 genomes]
rs34082454	0.99[ASN][1000 genomes]
rs35419160	0.96[ASN][1000 genomes]
rs3849314	0.96[ASN][1000 genomes]
rs3910512	0.96[ASN][1000 genomes]
rs3980067	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4443006	0.85[EUR][1000 genomes]
rs56010201	0.95[ASN][1000 genomes]
rs62157527	0.87[ASN][1000 genomes]
rs62158577	0.88[EUR][1000 genomes]
rs6542059	0.92[ASN][1000 genomes]
rs6542060	0.92[ASN][1000 genomes]
rs6542061	0.96[ASN][1000 genomes]
rs6718241	0.96[ASN][1000 genomes]
rs6718489	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760014	0.96[ASN][1000 genomes]
rs7569407	0.92[ASN][1000 genomes]
rs7580213	0.96[ASN][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:120 , 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	chr2:113285600-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:113285800-113291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:113285800-113291400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:113285800-113291400	Strong transcription	Dnd41	blood
10	chr2:113285800-113291600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:113285800-113291600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:113286000-113291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:113286000-113291400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:113286000-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113286000-113291400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:113286000-113291400	Strong transcription	Fetal Thymus	thymus
17	chr2:113286000-113291400	Strong transcription	Left Ventricle	heart
18	chr2:113286000-113291600	Strong transcription	Fetal Stomach	stomach
19	chr2:113286000-113291600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:113286000-113292200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:113286000-113292200	Strong transcription	Fetal Brain Female	brain
22	chr2:113286200-113291400	Strong transcription	HSMMtube	muscle
23	chr2:113286200-113291600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:113286200-113291600	Strong transcription	HSMM	muscle
25	chr2:113286200-113292200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:113287000-113291400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:113287000-113291400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:113287000-113291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:113287000-113298800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:113287000-113298800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:113287000-113299000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:113287000-113299000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:113287200-113298800	Weak transcription	Fetal Brain Male	brain
34	chr2:113287200-113298800	Weak transcription	Pancreas	Pancrea
35	chr2:113287200-113299000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:113287400-113298800	Weak transcription	Hela-S3	cervix
37	chr2:113287600-113291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:113287600-113298600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:113287600-113299000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:113287800-113291400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:113287800-113291600	Strong transcription	Brain Angular Gyrus	brain
42	chr2:113287800-113298800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:113287800-113298800	Weak transcription	Fetal Intestine Large	intestine
44	chr2:113287800-113299000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:113287800-113299000	Weak transcription	Liver	Liver
46	chr2:113287800-113299400	Weak transcription	Spleen	Spleen
47	chr2:113288000-113291600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:113288000-113298600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:113288000-113299000	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:113288200-113291600	Strong transcription	Brain Inferior Temporal Lobe	brain

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