Variant report

Variant	rs2463096
Chromosome Location	chr7:128945025-128945026
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	chr7:128944152..128946842-chr7:128948380..128950541,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10215998	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235589	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10269495	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12533108	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13240723	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1405475	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1469554	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526898	1.00[EUR][1000 genomes]
rs1526899	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1549788	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1609043	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1991645	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2402946	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2402947	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	1.00[EUR][1000 genomes]
rs2566882	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694570	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2694575	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694576	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694577	1.00[EUR][1000 genomes]
rs2694583	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2718085	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2718090	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2718092	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2718099	0.83[AFR][1000 genomes]
rs2718100	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28399138	1.00[EUR][1000 genomes]
rs28864519	1.00[EUR][1000 genomes]
rs4731567	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6467234	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6467236	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6949882	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6950279	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6970267	0.82[AFR][1000 genomes]
rs71529418	0.82[AFR][1000 genomes]
rs71577870	0.82[AFR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	0.84[AFR][1000 genomes];1.00[EUR][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	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
2	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:128920000-128951600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:128925800-128947600	Weak transcription	Ovary	ovary
5	chr7:128929200-128963800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:128935600-128946400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:128941800-128962600	Weak transcription	Fetal Stomach	stomach
8	chr7:128943200-128946000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:128943200-128947800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:128943800-128946600	Weak transcription	Psoas Muscle	Psoas
11	chr7:128943800-128961800	Weak transcription	Fetal Intestine Small	intestine
12	chr7:128944200-128963200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:128944400-128947800	Weak transcription	Fetal Heart	heart
14	chr7:128945000-128954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:128945000-128963600	Weak transcription	Primary hematopoietic stem cells	blood

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