Variant report

Variant	rs13031370
Chromosome Location	chr2:172753721-172753722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172749510..172752866-chr2:172752874..172756053,4	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10179020	0.83[AMR][1000 genomes]
rs10191399	0.89[AMR][1000 genomes]
rs10196521	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10432474	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs10930501	0.85[AMR][1000 genomes]
rs1105264	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11676484	0.85[AMR][1000 genomes]
rs11677573	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11695887	0.80[AFR][1000 genomes]
rs11903123	0.83[AMR][1000 genomes]
rs11903410	0.85[AMR][1000 genomes]
rs12467010	0.88[AMR][1000 genomes]
rs12479374	0.92[AMR][1000 genomes]
rs13399316	0.88[AMR][1000 genomes]
rs1400816	0.86[AMR][1000 genomes]
rs1878583	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1982288	0.85[AMR][1000 genomes]
rs1996425	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2028670	0.83[AMR][1000 genomes]
rs2028671	0.83[AMR][1000 genomes]
rs2292813	0.82[AMR][1000 genomes]
rs2357207	0.88[AMR][1000 genomes]
rs2357208	0.88[AMR][1000 genomes]
rs28372952	0.88[AMR][1000 genomes]
rs3770444	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3770457	0.83[AMR][1000 genomes]
rs3821092	0.88[AMR][1000 genomes]
rs3821094	0.86[AMR][1000 genomes]
rs3821096	0.83[AMR][1000 genomes]
rs4507064	0.82[AMR][1000 genomes]
rs4668417	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs60706248	0.88[AMR][1000 genomes]
rs6433313	0.83[AMR][1000 genomes]
rs6433315	0.86[AMR][1000 genomes]
rs6433316	0.88[AMR][1000 genomes]
rs6433317	0.85[AFR][1000 genomes]
rs6433318	0.88[AMR][1000 genomes]
rs6433322	0.85[AMR][1000 genomes]
rs6707142	0.85[AMR][1000 genomes]
rs6708365	0.80[AFR][1000 genomes]
rs6714214	0.83[AMR][1000 genomes]
rs6726050	0.82[AMR][1000 genomes]
rs6733123	0.83[AMR][1000 genomes]
rs6736159	0.81[AFR][1000 genomes]
rs6753551	0.83[AMR][1000 genomes]
rs6753859	0.85[AMR][1000 genomes]
rs7371631	0.85[AMR][1000 genomes]
rs7583860	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7588025	0.85[AFR][1000 genomes]
rs7598232	0.85[AMR][1000 genomes]
rs949548	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
3	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172751400-172754200	Weak transcription	Aorta	Aorta
2	chr2:172751600-172754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:172751600-172754200	Weak transcription	Osteobl	bone
4	chr2:172751600-172754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:172751800-172754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:172751800-172754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:172751800-172754200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:172752400-172754400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:172752600-172754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:172753600-172755200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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