Variant report

Variant	rs2433319
Chromosome Location	chr4:95369742-95369743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr4:95368586-95369876	HEK293	kidney:	n/a	chr4:95369132-95369146 chr4:95369131-95369147 chr4:95369131-95369147
2	KAP1	chr4:95368379-95369839	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
PDLIM5	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28697067	0.83[ASN][1000 genomes]
rs6812165	0.81[ASN][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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95366600-95369800	Enhancers	Osteobl	bone
2	chr4:95367200-95369800	Enhancers	HSMM	muscle
3	chr4:95367200-95369800	Enhancers	NHDF-Ad	bronchial
4	chr4:95367200-95370400	Enhancers	HMEC	breast
5	chr4:95367200-95370600	Enhancers	Hela-S3	cervix
6	chr4:95367400-95370200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:95367400-95370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:95367400-95370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:95367400-95370400	Enhancers	NHEK	skin
10	chr4:95367600-95369800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:95367800-95370600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:95367800-95372200	Weak transcription	Psoas Muscle	Psoas
13	chr4:95368200-95370000	Enhancers	HepG2	liver
14	chr4:95368200-95370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:95368200-95371000	Enhancers	Fetal Intestine Large	intestine
16	chr4:95368200-95372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:95368400-95370600	Enhancers	Fetal Intestine Small	intestine
18	chr4:95368400-95370600	Enhancers	K562	blood
19	chr4:95368600-95370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:95368600-95372200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:95368600-95372200	Weak transcription	NH-A	brain
22	chr4:95368800-95370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:95368800-95370600	Enhancers	HUVEC	blood vessel
24	chr4:95368800-95372000	Weak transcription	HSMMtube	muscle
25	chr4:95369000-95370600	Enhancers	Stomach Mucosa	stomach
26	chr4:95369200-95370400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:95369200-95370400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:95369200-95370800	Enhancers	Fetal Heart	heart
29	chr4:95369200-95371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:95369400-95370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:95369400-95372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:95369400-95373000	Weak transcription	Small Intestine	intestine
33	chr4:95369600-95370200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:95369600-95370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:95369600-95370600	Flanking Active TSS	A549	lung
36	chr4:95369600-95372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:95369600-95372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:95369600-95372200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:95369600-95372200	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links