Variant report

Variant	rs12679527
Chromosome Location	chr8:8831989-8831990
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:
2	chr8:8829651..8832164-chr8:8833894..8836352,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1016512	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1045528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10503395	1.00[ASN][1000 genomes]
rs11249899	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249731	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13250919	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263480	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273769	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13273871	1.00[ASN][1000 genomes]
rs13274157	1.00[ASN][1000 genomes]
rs13276537	1.00[ASN][1000 genomes]
rs1430931	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs28393746	1.00[ASN][1000 genomes]
rs28405982	1.00[ASN][1000 genomes]
rs28516774	0.85[EUR][1000 genomes]
rs28534948	0.85[EUR][1000 genomes]
rs28812315	0.85[EUR][1000 genomes]
rs2956245	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34334157	0.91[EUR][1000 genomes]
rs34391124	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34412730	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418902	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712023	1.00[ASN][1000 genomes]
rs34991317	0.83[EUR][1000 genomes]
rs35694603	0.85[EUR][1000 genomes]
rs3958881	1.00[ASN][1000 genomes]
rs4840380	0.83[EUR][1000 genomes]
rs4841088	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634245	1.00[ASN][1000 genomes]
rs55696609	1.00[ASN][1000 genomes]
rs60519586	1.00[ASN][1000 genomes]
rs62492946	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66483157	1.00[ASN][1000 genomes]
rs66869483	1.00[ASN][1000 genomes]
rs67139167	1.00[ASN][1000 genomes]
rs67434672	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67575865	1.00[ASN][1000 genomes]
rs67958495	0.80[EUR][1000 genomes]
rs68043139	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989707	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6993811	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7008080	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7012302	1.00[ASN][1000 genomes]
rs73195799	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197711	1.00[ASN][1000 genomes]
rs73197712	1.00[ASN][1000 genomes]
rs7816149	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7816450	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9650628	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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
rs12679527	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 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	chr8:8830200-8832200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:8830200-8835000	Weak transcription	Liver	Liver
6	chr8:8830400-8832200	Enhancers	K562	blood
7	chr8:8830600-8832200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:8831000-8832200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:8831400-8832200	Enhancers	HepG2	liver
10	chr8:8831400-8835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:8831800-8832600	Enhancers	Dnd41	blood

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