Variant report

Variant	rs13259143
Chromosome Location	chr8:8821637-8821638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4841077	0.92[CEU][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes]
rs6422353	0.82[JPT][hapmap]
rs6981573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6994163	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13259143	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs13259143	TDH	cis	cerebellum	SCAN
rs13259143	FLJ10661	cis	cerebellum	SCAN
rs13259143	CLDN23	cis	multi-tissue	Pritchard
rs13259143	PPP1R3B	cis	cerebellum	SCAN
rs13259143	RP11-62H7.2	cis	Thyroid	GTEx
rs13259143	CTSB	cis	cerebellum	SCAN
rs13259143	PPP1R3B	cis	lymphoblastoid	seeQTL
rs13259143	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:25 , 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	chr8:8820600-8821800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:8820800-8821800	Active TSS	Brain Anterior Caudate	brain
5	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:8821200-8822400	Enhancers	K562	blood
7	chr8:8821200-8825600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:8821200-8835600	Weak transcription	Gastric	stomach
9	chr8:8821400-8821800	Enhancers	Liver	Liver
10	chr8:8821400-8821800	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr8:8821400-8821800	Bivalent Enhancer	Osteobl	bone
12	chr8:8821400-8822000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:8821400-8827400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:8821600-8821800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr8:8821600-8821800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:8821600-8821800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:8821600-8821800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:8821600-8821800	Flanking Active TSS	Fetal Kidney	kidney
19	chr8:8821600-8821800	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr8:8821600-8821800	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:8821600-8821800	Bivalent/Poised TSS	HSMMtube	muscle
22	chr8:8821600-8825400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:8821600-8826600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:8821600-8827200	Weak transcription	Fetal Intestine Small	intestine
25	chr8:8821600-8827400	Weak transcription	Stomach Mucosa	stomach

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