Variant report

Variant	rs12995005
Chromosome Location	chr2:114616493-114616494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114613097..114614996-chr2:114615695..114618049,2	MCF-7	breast:
2	chr2:114615622..114617608-chr2:114647057..114649306,3	K562	blood:
3	chr2:114615060..114620360-chr2:114646762..114649306,5	K562	blood:
4	chr2:114612352..114613856-chr2:114615022..114617998,2	K562	blood:

Variant related genes	Relation type
ENSG00000270019	Chromatin interaction
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11678478	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1394165	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17045861	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17567465	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4848359	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4849293	0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4849294	0.81[AMR][1000 genomes]
rs62171767	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72835423	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9941677	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12995005	SLC35F5	cis	Thyroid	GTEx
rs12995005	CHCHD5	cis	cerebellum	SCAN
rs12995005	ACTR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
2	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:114602800-114626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:114606200-114621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:114611600-114623400	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:114612800-114626000	Weak transcription	Thymus	Thymus
9	chr2:114613200-114631400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:114614000-114621800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:114614400-114616800	Enhancers	Primary B cells from cord blood	blood
12	chr2:114614600-114617000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:114614600-114617000	Enhancers	K562	blood
14	chr2:114615000-114621200	Enhancers	GM12878-XiMat	blood
15	chr2:114615200-114617000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:114615600-114619600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:114615600-114619800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:114615800-114616800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:114615800-114617000	Enhancers	HMEC	breast
20	chr2:114615800-114617000	Enhancers	NHEK	skin
21	chr2:114615800-114617400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:114616000-114616600	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:114616000-114616600	Enhancers	Brain Hippocampus Middle	brain
24	chr2:114616000-114616600	Enhancers	Spleen	Spleen
25	chr2:114616000-114616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:114616000-114616800	Strong transcription	Primary T cells from cord blood	blood
27	chr2:114616000-114616800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:114616000-114616800	Enhancers	Hela-S3	cervix
29	chr2:114616000-114616800	Enhancers	NH-A	brain
30	chr2:114616000-114616800	Enhancers	NHLF	lung
31	chr2:114616000-114617000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:114616000-114617000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:114616000-114617000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:114616000-114617000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:114616000-114617000	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:114616000-114617000	Enhancers	A549	lung
37	chr2:114616000-114617000	Enhancers	HSMM	muscle
38	chr2:114616000-114617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:114616000-114617200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:114616000-114617200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:114616000-114617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:114616200-114616600	Enhancers	Osteobl	bone
43	chr2:114616200-114617000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:114616200-114617000	Enhancers	HSMMtube	muscle
45	chr2:114616200-114617000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:114616400-114617000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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