Variant report

Variant	rs62192764
Chromosome Location	chr2:234440780-234440781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234440450..234442285-chr2:234472389..234474256,2	K562	blood:
2	chr2:234430061..234434365-chr2:234434465..234441171,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12472244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62192761	0.83[EUR][1000 genomes]

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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62192764	USP40	Cis_1M	lymphoblastoid	RTeQTL
rs62192764	USP40	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
3	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
4	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
5	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
6	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
8	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
9	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
10	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:234416200-234441200	Weak transcription	Fetal Kidney	kidney
12	chr2:234416200-234441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:234423800-234441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:234426400-234453600	Weak transcription	NH-A	brain
17	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:234428600-234440800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:234428600-234440800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
22	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:234430400-234443600	Weak transcription	GM12878-XiMat	blood
24	chr2:234430400-234453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:234431600-234441200	Weak transcription	Fetal Brain Female	brain
27	chr2:234431600-234452200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:234432200-234440800	Weak transcription	NHLF	lung
30	chr2:234432200-234441000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:234432200-234443200	Weak transcription	NHDF-Ad	bronchial
32	chr2:234432200-234444000	Weak transcription	HMEC	breast
33	chr2:234432200-234447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:234432200-234452000	Weak transcription	Small Intestine	intestine
35	chr2:234432200-234453000	Weak transcription	Fetal Lung	lung
36	chr2:234432200-234454000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
38	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
39	chr2:234432800-234440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:234432800-234440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:234432800-234445400	Weak transcription	Pancreas	Pancrea
42	chr2:234432800-234453600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:234433000-234462600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:234434600-234440800	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:234434600-234454000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:234434600-234466200	Weak transcription	Right Ventricle	heart
47	chr2:234434800-234442200	Weak transcription	Primary B cells from cord blood	blood
48	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:234437800-234453800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:234438000-234459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links