Variant report

Variant	rs9596217
Chromosome Location	chr13:50539932-50539933
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	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs9316480	1.00[AMR][1000 genomes]
rs9591304	1.00[AMR][1000 genomes]
rs9591319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9591324	1.00[AMR][1000 genomes]
rs9596227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	nsv561630	chr13:50525141-50545402	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv517142	chr13:50535863-50545357	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:50529800-50543200	Weak transcription	Osteobl	bone
5	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
7	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
8	chr13:50533000-50552200	Weak transcription	Ovary	ovary
9	chr13:50534400-50550400	Weak transcription	HSMM	muscle
10	chr13:50535600-50547400	Weak transcription	Thymus	Thymus
11	chr13:50536400-50552800	Weak transcription	Fetal Heart	heart
12	chr13:50536600-50540600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr13:50538200-50540600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:50538200-50550400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:50538200-50558000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr13:50538800-50550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:50539000-50548800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr13:50539000-50570000	Weak transcription	Fetal Intestine Small	intestine
19	chr13:50539400-50540000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:50539400-50541200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:50539600-50540000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr13:50539600-50540400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:50539600-50540400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:50539600-50540400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:50539800-50550400	Weak transcription	A549	lung

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