Variant report

Variant	rs7004160
Chromosome Location	chr8:8826172-8826173
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	chr8:8825033..8827497-chr8:8830401..8832914,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11990476	0.93[ASN][1000 genomes]
rs11992016	0.93[ASN][1000 genomes]
rs12549151	0.81[ASN][1000 genomes]
rs13252797	0.86[ASN][1000 genomes]
rs1594437	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2043129	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2043131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2060045	1.00[ASN][1000 genomes]
rs28510464	0.86[ASN][1000 genomes]
rs28587518	0.93[ASN][1000 genomes]
rs28740848	0.86[ASN][1000 genomes]
rs4840381	1.00[ASN][1000 genomes]
rs57395675	0.93[ASN][1000 genomes]
rs57693332	0.86[ASN][1000 genomes]
rs58594457	0.93[ASN][1000 genomes]
rs59374911	0.93[ASN][1000 genomes]
rs59454995	1.00[ASN][1000 genomes]
rs60274012	0.93[ASN][1000 genomes]
rs62492946	0.81[ASN][1000 genomes]
rs7014430	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7014604	0.93[ASN][1000 genomes]
rs7016240	0.93[ASN][1000 genomes]
rs73514371	0.86[ASN][1000 genomes]
rs73514373	1.00[ASN][1000 genomes]
rs73518314	1.00[ASN][1000 genomes]
rs73518320	1.00[ASN][1000 genomes]
rs73522594	0.93[ASN][1000 genomes]
rs73662257	0.93[ASN][1000 genomes]
rs7814828	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7836156	1.00[ASN][1000 genomes]
rs9987276	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7004160	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs7004160	RP11-62H7.2	cis	Thyroid	GTEx

Chromatin state (count:12 , 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	chr8:8817800-8827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:8821200-8835600	Weak transcription	Gastric	stomach
5	chr8:8821400-8827400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:8821600-8826600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:8821600-8827200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:8821600-8827400	Weak transcription	Stomach Mucosa	stomach
9	chr8:8821800-8831000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:8825400-8826800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:8825600-8826400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr8:8826000-8831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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