Variant report

Variant	rs12616714
Chromosome Location	chr2:173923807-173923808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:173923339-173923883	HepG2	liver:	n/a	n/a
2	SETDB1	chr2:173923344-173923931	U2OS	brain:	n/a	n/a
3	ARID3A	chr2:173923464-173923868	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173910304..173913070-chr2:173922238..173925157,2	MCF-7	breast:
2	chr2:173922841..173925696-chr2:173937361..173940989,3	K562	blood:
3	chr2:173920583..173924312-chr2:173940394..173943115,4	MCF-7	breast:
4	chr2:173922130..173925125-chr2:173934034..173936913,2	K562	blood:
5	chr2:173922841..173924723-chr2:173937361..173940301,2	K562	blood:
6	chr2:173913769..173915858-chr2:173923685..173926368,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265709	TF binding region
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12986917	0.81[ASN][1000 genomes]
rs12987496	0.82[ASN][1000 genomes]
rs12989116	0.83[ASN][1000 genomes]
rs13004212	0.82[ASN][1000 genomes]
rs17302977	0.81[ASN][1000 genomes]
rs34472765	0.82[ASN][1000 genomes]
rs34702663	0.81[ASN][1000 genomes]
rs35107898	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35250703	0.82[ASN][1000 genomes]
rs35599077	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36102078	0.82[ASN][1000 genomes]
rs56193548	0.82[ASN][1000 genomes]
rs56342397	0.81[ASN][1000 genomes]
rs72905080	0.82[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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173915200-173924000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
4	chr2:173916800-173927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:173920600-173924200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
7	chr2:173921200-173925600	Enhancers	Adipose Nuclei	Adipose
8	chr2:173921200-173926400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:173922000-173924800	Weak transcription	Ovary	ovary
10	chr2:173922000-173926000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:173922200-173924400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:173923200-173924600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:173923200-173925200	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:173923400-173924000	Enhancers	Spleen	Spleen
15	chr2:173923400-173924600	Enhancers	Liver	Liver
16	chr2:173923400-173924800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:173923400-173925200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:173923400-173925400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:173923400-173925600	Enhancers	Primary B cells from cord blood	blood
20	chr2:173923600-173924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:173923600-173924600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:173923600-173924600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:173923600-173924600	Weak transcription	NHDF-Ad	bronchial
24	chr2:173923800-173924000	Enhancers	NHEK	skin
25	chr2:173923800-173926200	Enhancers	HepG2	liver
26	chr2:173923800-173928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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