Variant report

Variant	rs17864764
Chromosome Location	chr2:234884354-234884355
allele	A/G
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	JUND	chr2:234883056-234884389	SK-N-SH	brain:	n/a	chr2:234883408-234883415 chr2:234883316-234883325 chr2:234883491-234883499 chr2:234883316-234883326 chr2:234883315-234883327 chr2:234883318-234883329 chr2:234883408-234883416 chr2:234883406-234883417 chr2:234883490-234883500 chr2:234883408-234883416 chr2:234883316-234883326 chr2:234883492-234883499 chr2:234883316-234883326

Variant related genes	Relation type
TRPM8	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17868396	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs28901876	0.83[AMR][1000 genomes];0.97[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234880200-234885800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234881600-234886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:234881800-234884600	Enhancers	Liver	Liver
4	chr2:234881800-234886000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:234881800-234886400	Enhancers	HMEC	breast
6	chr2:234881800-234886400	Enhancers	NHEK	skin
7	chr2:234881800-234886600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:234881800-234890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:234882200-234885200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:234882200-234886200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:234882200-234886600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:234882400-234884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:234882400-234884600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:234882400-234886000	Enhancers	NH-A	brain
15	chr2:234882400-234886000	Enhancers	NHDF-Ad	bronchial
16	chr2:234882400-234892200	Enhancers	NHLF	lung
17	chr2:234882800-234885000	Weak transcription	HepG2	liver
18	chr2:234883400-234885400	Enhancers	Pancreas	Pancrea
19	chr2:234883600-234885600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:234883600-234886000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:234883600-234886400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:234883800-234884800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234883800-234885000	Weak transcription	Esophagus	oesophagus
24	chr2:234883800-234885600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:234883800-234886800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:234884000-234884800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:234884000-234885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:234884200-234884600	Weak transcription	Hela-S3	cervix
29	chr2:234884200-234885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:234884200-234885600	Enhancers	A549	lung
31	chr2:234884200-234887600	Weak transcription	HSMM	muscle
32	chr2:234884200-234888000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:234884200-234888000	Weak transcription	Osteobl	bone
34	chr2:234884200-234888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:234884200-234888400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:234884200-234889400	Weak transcription	HSMMtube	muscle

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