Variant report

Variant	rs2639795
Chromosome Location	chr4:95439154-95439155
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95438774..95443250-chr4:95444770..95449023,5	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10213504	0.85[CEU][hapmap]
rs11731606	0.85[CEU][hapmap]
rs17379209	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs2555216	0.83[EUR][1000 genomes]
rs2639793	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs3805274	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs3805301	0.81[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs6812098	0.85[CEU][hapmap]
rs6830074	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs699861	0.90[ASW][hapmap];0.93[CEU][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs774983	0.85[JPT][hapmap]
rs774988	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs774989	0.82[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs774993	0.86[AMR][1000 genomes];0.95[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2639795	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
8	chr4:95429800-95440000	Weak transcription	Ovary	ovary
9	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
10	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
11	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
12	chr4:95431200-95440000	Weak transcription	Pancreas	Pancrea
13	chr4:95435600-95440000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:95435800-95440200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
16	chr4:95436200-95439200	Enhancers	NH-A	brain
17	chr4:95436200-95439400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:95436200-95439400	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:95436200-95441600	Enhancers	Liver	Liver
20	chr4:95436400-95440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
22	chr4:95436600-95439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
24	chr4:95437200-95448400	Weak transcription	HSMM	muscle
25	chr4:95437400-95439200	Enhancers	K562	blood
26	chr4:95437400-95440000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:95437400-95445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:95437600-95440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:95437600-95441000	Enhancers	A549	lung
30	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:95437800-95440000	Weak transcription	Right Atrium	heart
32	chr4:95437800-95440000	Enhancers	HUVEC	blood vessel
33	chr4:95437800-95440400	Enhancers	Osteobl	bone
34	chr4:95437800-95441200	Weak transcription	NHDF-Ad	bronchial
35	chr4:95437800-95448600	Weak transcription	NHEK	skin
36	chr4:95438000-95439800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:95438000-95439800	Weak transcription	Placenta	Placenta
38	chr4:95438000-95440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:95438000-95440000	Weak transcription	Aorta	Aorta
40	chr4:95438000-95440000	Weak transcription	Left Ventricle	heart
41	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
42	chr4:95438200-95440400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:95438200-95440600	Weak transcription	Colonic Mucosa	Colon
44	chr4:95438200-95441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:95438200-95442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:95438200-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:95438400-95439200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:95438400-95440000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:95438400-95440000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links