Variant report

Variant	rs60321479
Chromosome Location	chr13:75993701-75993702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75992093..75993846-chr13:76062771..76064533,2	K562	blood:
2	chr13:75902704..75905125-chr13:75993318..75996004,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17064449	0.84[AFR][1000 genomes]
rs7321314	0.83[AFR][1000 genomes]
rs7328500	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
3	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:75988600-75999800	Weak transcription	K562	blood
5	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:75989400-75994400	Enhancers	Adipose Nuclei	Adipose
7	chr13:75990400-75996000	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:75991200-75994200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr13:75991200-75994600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:75991400-75994000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr13:75991400-75994600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:75991600-75994000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:75991600-75994000	Weak transcription	Esophagus	oesophagus
14	chr13:75991600-75994000	Weak transcription	Left Ventricle	heart
15	chr13:75991600-75995200	Weak transcription	Lung	lung
16	chr13:75991600-75995400	Weak transcription	Gastric	stomach
17	chr13:75991600-75998200	Weak transcription	Right Ventricle	heart
18	chr13:75991800-75995400	Weak transcription	Right Atrium	heart
19	chr13:75991800-75995400	Weak transcription	Small Intestine	intestine
20	chr13:75991800-75999000	Weak transcription	GM12878-XiMat	blood
21	chr13:75992200-75994800	Enhancers	HepG2	liver
22	chr13:75992800-75993800	Enhancers	Osteobl	bone
23	chr13:75993200-75994000	Weak transcription	Ovary	ovary
24	chr13:75993400-75993800	Weak transcription	Psoas Muscle	Psoas
25	chr13:75993400-75994800	Enhancers	Fetal Muscle Leg	muscle
26	chr13:75993400-75997800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr13:75993600-75994600	Enhancers	Pancreas	Pancrea
28	chr13:75993600-75995800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:75993600-75996000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr13:75993600-76006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:75993600-76006800	Weak transcription	Hela-S3	cervix
32	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung

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