Variant report

Variant	rs7328500
Chromosome Location	chr13:75992638-75992639
allele	A/G
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:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17064449	0.89[YRI][hapmap]
rs60321479	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537549	0.87[AFR][1000 genomes]
rs73537555	0.84[AFR][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:45 , 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	chr13:75989600-75993600	Enhancers	HMEC	breast
8	chr13:75989800-75993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:75990400-75996000	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:75990600-75992800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr13:75990600-75993400	Enhancers	Psoas Muscle	Psoas
12	chr13:75991200-75993000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:75991200-75994200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr13:75991200-75994600	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:75991400-75994000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:75991400-75994600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr13:75991600-75992800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:75991600-75992800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:75991600-75993400	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:75991600-75994000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:75991600-75994000	Weak transcription	Esophagus	oesophagus
22	chr13:75991600-75994000	Weak transcription	Left Ventricle	heart
23	chr13:75991600-75995200	Weak transcription	Lung	lung
24	chr13:75991600-75995400	Weak transcription	Gastric	stomach
25	chr13:75991600-75998200	Weak transcription	Right Ventricle	heart
26	chr13:75991800-75993000	Weak transcription	Liver	Liver
27	chr13:75991800-75993000	Weak transcription	Pancreas	Pancrea
28	chr13:75991800-75993000	Weak transcription	Stomach Mucosa	stomach
29	chr13:75991800-75993000	Weak transcription	NHLF	lung
30	chr13:75991800-75993600	Enhancers	Hela-S3	cervix
31	chr13:75991800-75995400	Weak transcription	Right Atrium	heart
32	chr13:75991800-75995400	Weak transcription	Small Intestine	intestine
33	chr13:75991800-75999000	Weak transcription	GM12878-XiMat	blood
34	chr13:75992000-75993000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:75992200-75992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:75992200-75993400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:75992200-75994800	Enhancers	HepG2	liver
38	chr13:75992400-75992800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:75992400-75992800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:75992400-75992800	Weak transcription	Osteobl	bone
41	chr13:75992400-75993200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:75992400-75993200	Enhancers	Ovary	ovary
43	chr13:75992600-75992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:75992600-75993600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr13:75992600-75993600	Enhancers	Fetal Lung	lung

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