Variant report

Variant	rs4883997
Chromosome Location	chr13:75994692-75994693
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	chr13:75902704..75905125-chr13:75993318..75996004,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1028793	0.82[ASN][1000 genomes]
rs10507830	1.00[JPT][hapmap]
rs1105687	0.82[ASN][1000 genomes]
rs1408928	0.82[ASN][1000 genomes]
rs17064386	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17064454	1.00[JPT][hapmap]
rs2025620	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031505	1.00[JPT][hapmap]
rs2031506	1.00[JPT][hapmap]
rs2147851	0.93[ASN][1000 genomes]
rs4133440	0.93[ASN][1000 genomes]
rs4280128	0.82[ASN][1000 genomes]
rs4340196	1.00[JPT][hapmap]
rs4530013	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4576949	0.90[EUR][1000 genomes]
rs4885295	1.00[JPT][hapmap]
rs5021641	0.82[CHB][hapmap]
rs7321494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7990050	0.82[ASN][1000 genomes]
rs7992747	0.82[CHB][hapmap]
rs7998651	0.82[CHB][hapmap]
rs9318344	0.82[ASN][1000 genomes]
rs9530434	0.82[ASN][1000 genomes]
rs9530435	0.93[ASN][1000 genomes]
rs9573531	0.82[CHB][hapmap]
rs9573539	0.82[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:75988600-75999800	Weak transcription	K562	blood
3	chr13:75990400-75996000	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:75991600-75995200	Weak transcription	Lung	lung
5	chr13:75991600-75995400	Weak transcription	Gastric	stomach
6	chr13:75991600-75998200	Weak transcription	Right Ventricle	heart
7	chr13:75991800-75995400	Weak transcription	Right Atrium	heart
8	chr13:75991800-75995400	Weak transcription	Small Intestine	intestine
9	chr13:75991800-75999000	Weak transcription	GM12878-XiMat	blood
10	chr13:75992200-75994800	Enhancers	HepG2	liver
11	chr13:75993400-75994800	Enhancers	Fetal Muscle Leg	muscle
12	chr13:75993400-75997800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:75993600-75995800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:75993600-75996000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr13:75993600-76006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:75993600-76006800	Weak transcription	Hela-S3	cervix
17	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
18	chr13:75994000-75996400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:75994000-75996400	Enhancers	Ovary	ovary
20	chr13:75994200-75995200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:75994200-75996000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr13:75994400-75995400	Weak transcription	Adipose Nuclei	Adipose
23	chr13:75994400-75995400	Weak transcription	Psoas Muscle	Psoas
24	chr13:75994400-75995600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr13:75994400-76004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr13:75994600-75994800	Enhancers	Brain Hippocampus Middle	brain
27	chr13:75994600-75995000	Enhancers	Fetal Heart	heart
28	chr13:75994600-75995000	Weak transcription	Left Ventricle	heart
29	chr13:75994600-75995000	Weak transcription	Pancreas	Pancrea
30	chr13:75994600-75995000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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