Variant report

Variant	rs13024662
Chromosome Location	chr2:172753050-172753051
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:
2	chr2:172751399..172753053-chr2:172972072..172974852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11673831	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11675404	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11675891	0.81[AMR][1000 genomes]
rs11678018	0.81[ASN][1000 genomes]
rs11691301	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12991441	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13016580	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13017695	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13021138	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1554259	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17427473	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17499306	0.84[AMR][1000 genomes]
rs17499502	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17848721	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1996424	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2138349	0.85[AMR][1000 genomes]
rs2357062	0.85[AMR][1000 genomes]
rs34108287	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34221876	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34632749	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34962243	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35162284	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770459	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182397	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62182402	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62184174	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74173119	0.88[AMR][1000 genomes];0.85[EUR][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172751400-172754200	Weak transcription	Aorta	Aorta
2	chr2:172751600-172753400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:172751600-172754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:172751600-172754200	Weak transcription	Osteobl	bone
5	chr2:172751600-172754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:172751800-172754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:172751800-172754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172751800-172754200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:172752400-172754400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:172752600-172753600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:172752600-172754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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