Variant report

Variant	rs6721761
Chromosome Location	chr2:234912661-234912662
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234910139..234913008-chr2:234914027..234915853,2	K562	blood:
2	2:234494396-234495604..2:234898811-234918017	K562	blood:
3	2:234498935-234505513..2:234898811-234918017	Hela-S3	cervix:
4	2:234772667-234780240..2:234898811-234918017	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1118259	0.85[EUR][1000 genomes]
rs2052029	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2052030	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2190951	0.88[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs4664000	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4664001	0.88[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs585284	0.82[EUR][1000 genomes]
rs601129	0.82[EUR][1000 genomes]
rs604082	0.82[EUR][1000 genomes]
rs6431650	0.86[EUR][1000 genomes]
rs6431651	0.92[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs6431652	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6712962	0.83[JPT][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs6727222	0.84[CEU][hapmap]
rs6734618	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7560562	0.91[GIH][hapmap];0.89[TSI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6721761	TRPM8	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234909600-234919000	Strong transcription	Liver	Liver
2	chr2:234912000-234914000	Enhancers	NHDF-Ad	bronchial
3	chr2:234912200-234912800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:234912200-234913600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:234912200-234913600	Enhancers	NH-A	brain
6	chr2:234912400-234912800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:234912400-234913000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234912400-234913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:234912400-234913000	Enhancers	HSMMtube	muscle
10	chr2:234912400-234913400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:234912400-234913400	Enhancers	Hela-S3	cervix
12	chr2:234912400-234913400	Enhancers	HMEC	breast
13	chr2:234912400-234913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:234912400-234913600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:234912400-234913600	Enhancers	NHEK	skin
16	chr2:234912400-234913600	Enhancers	NHLF	lung
17	chr2:234912400-234913600	Enhancers	Osteobl	bone
18	chr2:234912400-234914000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:234912400-234914000	Enhancers	HSMM	muscle
20	chr2:234912600-234913000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:234912600-234913000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:234912600-234913000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:234912600-234913000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:234912600-234913000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:234912600-234913200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:234912600-234913200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:234912600-234913200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:234912600-234913400	Flanking Active TSS	A549	lung

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