Variant report

Variant	rs74078726
Chromosome Location	chr13:50532216-50532217
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	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:
2	chr13:50531043..50532904-chr13:50944878..50946623,2	K562	blood:

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

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

rs_ID	r²[population]
rs60897215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078720	0.81[AFR][1000 genomes]
rs7986331	0.81[AFR][1000 genomes]
rs8001223	0.81[AFR][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	esv1834429	chr13:50509784-50536186	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50513400-50532600	Weak transcription	Ovary	ovary
3	chr13:50513400-50532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:50525800-50532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:50529400-50534000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:50529600-50537000	Weak transcription	Psoas Muscle	Psoas
9	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:50529800-50532600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:50529800-50536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:50529800-50539400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:50529800-50543200	Weak transcription	Osteobl	bone
14	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:50530000-50536400	Weak transcription	Placenta	Placenta
16	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
17	chr13:50530400-50537200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr13:50530600-50533000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr13:50530800-50533200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:50531200-50532800	Enhancers	Brain Substantia Nigra	brain
21	chr13:50531200-50533200	Enhancers	Brain Hippocampus Middle	brain
22	chr13:50531400-50533000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:50531400-50533000	Enhancers	Brain Anterior Caudate	brain
24	chr13:50531400-50536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
26	chr13:50531800-50532600	Weak transcription	Aorta	Aorta
27	chr13:50532000-50532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:50532000-50532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:50532200-50532600	Weak transcription	Fetal Muscle Leg	muscle

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