Variant report

Variant	rs8000329
Chromosome Location	chr13:51002005-51002006
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	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
2	chr13:50873919..50876478-chr13:51000494..51003075,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10492410	0.82[ASN][1000 genomes]
rs12428189	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12431131	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327644	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1359860	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17074346	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17074358	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924372	0.89[EUR][1000 genomes]
rs1924373	0.85[EUR][1000 genomes]
rs201763	0.81[ASN][1000 genomes]
rs201777	0.81[ASN][1000 genomes]
rs201781	0.81[ASN][1000 genomes]
rs201782	0.81[ASN][1000 genomes]
rs201783	0.81[ASN][1000 genomes]
rs201784	0.81[ASN][1000 genomes]
rs201786	0.81[ASN][1000 genomes]
rs35824953	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs471315	0.88[ASN][1000 genomes]
rs56023535	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56075206	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58633776	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379059	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61962133	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61962135	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61964386	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67618912	0.83[ASN][1000 genomes]
rs719103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327154	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7334326	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7983762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000875	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8000921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316495	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316496	0.82[ASN][1000 genomes]
rs9316497	0.83[ASN][1000 genomes]
rs9562962	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9562964	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562965	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9562966	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9562967	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9562968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562973	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562974	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562975	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562976	0.82[EUR][1000 genomes]
rs9562980	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562981	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562982	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568397	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9568398	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9568400	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568401	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9568402	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568403	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568404	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568405	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9568406	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568410	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568412	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568413	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568414	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568415	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568416	0.89[ASN][1000 genomes]
rs9568417	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568418	0.82[ASN][1000 genomes]
rs9568419	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9568422	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568423	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568424	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568427	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568428	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568429	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568430	0.90[EUR][1000 genomes]
rs9568431	0.83[EUR][1000 genomes]
rs9634832	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9634834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50996600-51022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:50997000-51002200	Weak transcription	Right Atrium	heart
5	chr13:50997600-51002200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:50997800-51002600	Weak transcription	HSMMtube	muscle
7	chr13:50999400-51003800	Enhancers	Fetal Thymus	thymus
8	chr13:51001000-51003800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr13:51001200-51003000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr13:51001200-51003000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:51001200-51003800	Enhancers	Thymus	Thymus
12	chr13:51001400-51003000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr13:51001600-51002200	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:51001600-51003800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr13:51002000-51003000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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