Variant report

Variant	rs71528499
Chromosome Location	chr8:116219291-116219292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13252184	0.92[EUR][1000 genomes]
rs13267959	0.92[EUR][1000 genomes]
rs13274649	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13274984	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277974	0.92[EUR][1000 genomes]
rs13280123	0.92[EUR][1000 genomes]
rs13280169	0.92[ASN][1000 genomes]
rs13280450	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13439821	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16887165	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887186	0.92[EUR][1000 genomes]
rs1874185	1.00[ASN][1000 genomes]
rs28645421	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34217298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552607	0.92[EUR][1000 genomes]
rs35795849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35906055	0.96[EUR][1000 genomes]
rs41522344	1.00[ASN][1000 genomes]
rs4500103	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59909738	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60615994	1.00[ASN][1000 genomes]
rs60776807	0.92[EUR][1000 genomes]
rs61620615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004888	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012742	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528495	0.89[EUR][1000 genomes]
rs71528498	0.92[EUR][1000 genomes]
rs71528500	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528501	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703186	0.96[EUR][1000 genomes]
rs7822851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824433	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9771889	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv891399	chr8:116037798-116295809	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv891400	chr8:116139213-116373329	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv831431	chr8:116209344-116402304	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1024074	chr8:116211511-116387442	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116215400-116231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:116215800-116219600	Enhancers	Dnd41	blood
3	chr8:116216200-116220200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:116216400-116219800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:116216800-116219400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:116216800-116219800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:116217000-116220200	Enhancers	Primary T cells from cord blood	blood
8	chr8:116217400-116219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:116218000-116220000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:116218000-116220200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:116218400-116220000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:116218800-116219800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:116218800-116219800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:116219000-116219400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:116219200-116219600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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