Variant report

Variant	rs57719687
Chromosome Location	chr8:8830651-8830652
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	chr8:8825033..8827497-chr8:8830401..8832914,2	K562	blood:
2	chr8:8829651..8832164-chr8:8833894..8836352,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11778747	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12548787	0.91[EUR][1000 genomes]
rs2043130	0.91[EUR][1000 genomes]
rs2082211	0.82[EUR][1000 genomes]
rs4840377	0.82[EUR][1000 genomes]
rs4840381	0.91[EUR][1000 genomes]
rs4841079	0.92[EUR][1000 genomes]
rs57280925	0.86[AFR][1000 genomes]
rs73518330	0.87[AFR][1000 genomes]
rs7843154	0.85[AFR][1000 genomes]
rs9657526	0.80[AMR][1000 genomes];0.91[EUR][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	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	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
6	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
7	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57719687	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:8821200-8835600	Weak transcription	Gastric	stomach
4	chr8:8821800-8831000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:8826000-8831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:8826400-8831400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8826800-8831200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:8828800-8831200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:8829400-8830800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:8829400-8831400	Weak transcription	HepG2	liver
11	chr8:8830200-8831400	Enhancers	Fetal Stomach	stomach
12	chr8:8830200-8831600	Enhancers	Fetal Brain Male	brain
13	chr8:8830200-8832200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:8830200-8835000	Weak transcription	Liver	Liver
15	chr8:8830400-8831600	Enhancers	Brain Germinal Matrix	brain
16	chr8:8830400-8832200	Enhancers	K562	blood
17	chr8:8830600-8830800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:8830600-8831000	Active TSS	Fetal Brain Female	brain
19	chr8:8830600-8831000	Enhancers	Fetal Lung	lung
20	chr8:8830600-8831400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:8830600-8831800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:8830600-8832200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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