Variant report

Variant	rs7000323
Chromosome Location	chr8:8792273-8792274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8791750..8794485-chr8:8798173..8800628,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10096850	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10098531	0.83[AMR][1000 genomes]
rs10110329	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11775788	1.00[CHB][hapmap]
rs11779660	1.00[CHB][hapmap]
rs11779804	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11780338	1.00[CHB][hapmap]
rs11780774	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781203	1.00[CHB][hapmap]
rs11786407	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13250781	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1530484	1.00[CHB][hapmap]
rs17646197	1.00[CHB][hapmap]
rs17700611	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17701980	1.00[CHB][hapmap]
rs28572014	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36056437	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4840376	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6981610	1.00[CHB][hapmap]
rs6981745	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6982619	1.00[CHB][hapmap]
rs7001187	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7826478	1.00[CHB][hapmap]
rs7830266	1.00[CHB][hapmap]
rs7843024	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7843369	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7843789	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7846007	1.00[CHB][hapmap]
rs9329175	1.00[CHB][hapmap]

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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7000323	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs7000323	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs7000323	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8776600-8792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:8779800-8793600	Weak transcription	Right Ventricle	heart
4	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:8782000-8792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:8788200-8796400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:8790000-8792800	Weak transcription	Esophagus	oesophagus
14	chr8:8791000-8792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:8791400-8794000	Enhancers	Placenta	Placenta
16	chr8:8791600-8792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:8791600-8792600	Weak transcription	Osteobl	bone
18	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:8791800-8793000	Weak transcription	Thymus	Thymus
20	chr8:8792200-8792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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