Variant report

Variant	rs7986331
Chromosome Location	chr13:50533225-50533226
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	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1056543	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1326121	1.00[CEU][hapmap];0.91[AFR][1000 genomes]
rs1853926	1.00[CEU][hapmap];0.91[AFR][1000 genomes]
rs2066569	0.86[AFR][1000 genomes]
rs2066577	0.88[AFR][1000 genomes]
rs2066578	1.00[CEU][hapmap];0.81[AFR][1000 genomes]
rs2066580	0.88[AFR][1000 genomes]
rs2066582	0.81[AFR][1000 genomes]
rs2066588	0.88[AFR][1000 genomes]
rs41284812	0.81[AFR][1000 genomes]
rs41284814	0.81[AFR][1000 genomes]
rs58535000	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58584173	0.91[AFR][1000 genomes]
rs59019111	1.00[EUR][1000 genomes]
rs59881118	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61558258	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61623782	0.91[AFR][1000 genomes]
rs6561574	1.00[CEU][hapmap]
rs7319019	1.00[CEU][hapmap];0.86[AFR][1000 genomes]
rs73491507	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73491522	0.88[AFR][1000 genomes]
rs73494027	0.88[AFR][1000 genomes]
rs73494029	0.88[AFR][1000 genomes]
rs73494031	0.88[AFR][1000 genomes]
rs74078710	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74078712	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74078721	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078724	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078726	0.81[AFR][1000 genomes]
rs7993496	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8001223	1.00[CEU][hapmap];0.94[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:50529400-50534000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:50529600-50537000	Weak transcription	Psoas Muscle	Psoas
6	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:50529800-50536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:50529800-50539400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:50529800-50543200	Weak transcription	Osteobl	bone
10	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:50530000-50536400	Weak transcription	Placenta	Placenta
12	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
13	chr13:50530400-50537200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:50531400-50536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
16	chr13:50532400-50537600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:50532600-50535800	Weak transcription	Primary B cells from cord blood	blood
18	chr13:50532800-50533600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:50532800-50534000	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:50532800-50537400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:50533000-50534000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr13:50533000-50534200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:50533000-50552200	Weak transcription	Ovary	ovary
24	chr13:50533200-50534200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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