Variant report

Variant	rs12114954
Chromosome Location	chr8:8904862-8904863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8897459..8899671-chr8:8903621..8905460,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10105813	1.00[CHB][hapmap]
rs10217044	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1045527	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1045529	0.82[CEU][hapmap]
rs11782281	0.81[YRI][hapmap]
rs11784393	0.86[CEU][hapmap]
rs11785634	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11785819	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11787026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252797	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs13271797	0.93[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1562211	0.89[CEU][hapmap]
rs17702602	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2060045	1.00[JPT][hapmap]
rs2084076	0.82[YRI][hapmap]
rs2409120	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28482034	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28665409	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2953808	0.82[YRI][hapmap]
rs34004903	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34251783	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3855900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3895823	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3989373	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840389	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4841083	0.82[CEU][hapmap]
rs4841085	0.81[YRI][hapmap]
rs6601279	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601281	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601282	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs6748	0.93[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6981060	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986044	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6987107	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005056	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005133	0.86[CEU][hapmap]
rs7009435	1.00[CHB][hapmap]
rs7014430	0.84[CEU][hapmap]
rs7017868	0.93[CEU][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7462373	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814328	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7836156	1.00[JPT][hapmap]
rs9329175	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs9650616	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs9987276	1.00[JPT][hapmap]

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	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
3	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
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12114954	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs12114954	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
3	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
5	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
6	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
7	chr8:8891400-8915200	Weak transcription	K562	blood
8	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
9	chr8:8898600-8905200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:8898800-8907200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:8899800-8907200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8900000-8907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:8900000-8907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:8900400-8905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:8900600-8907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:8903000-8905600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:8903200-8910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:8904400-8907200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:8904600-8907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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