Variant report

Variant	rs6712962
Chromosome Location	chr2:234913033-234913034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234494396-234495604..2:234898811-234918017	K562	blood:
2	2:234498935-234505513..2:234898811-234918017	Hela-S3	cervix:
3	2:234772667-234780240..2:234898811-234918017	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000224287	Chromatin interaction

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

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

rs_ID	r²[population]
rs603217	0.82[AMR][1000 genomes]
rs6721761	0.83[JPT][hapmap];0.81[MKK][hapmap];0.89[YRI][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

No data

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	chr2:234912200-234913600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:234912200-234913600	Enhancers	NH-A	brain
5	chr2:234912400-234913400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:234912400-234913400	Enhancers	Hela-S3	cervix
7	chr2:234912400-234913400	Enhancers	HMEC	breast
8	chr2:234912400-234913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:234912400-234913600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234912400-234913600	Enhancers	NHEK	skin
11	chr2:234912400-234913600	Enhancers	NHLF	lung
12	chr2:234912400-234913600	Enhancers	Osteobl	bone
13	chr2:234912400-234914000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:234912400-234914000	Enhancers	HSMM	muscle
15	chr2:234912600-234913200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:234912600-234913200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:234912600-234913200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:234912600-234913400	Flanking Active TSS	A549	lung
19	chr2:234912800-234913200	Bivalent Enhancer	Fetal Stomach	stomach
20	chr2:234912800-234913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:234912800-234913600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:234912800-234914000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:234913000-234913200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:234913000-234913200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:234913000-234913200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:234913000-234913600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:234913000-234914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:234913000-234917400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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