Variant report

Variant	rs11787026
Chromosome Location	chr8:8902371-8902372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8896936..8899886-chr8:8901457..8903886,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:44)

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];0.85[LWK][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1045529	0.82[CEU][hapmap]
rs11784393	0.89[CEU][hapmap]
rs11785634	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785819	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12114954	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];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs13271797	0.87[ASW][hapmap];0.93[CEU][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1562211	0.89[CEU][hapmap];0.81[TSI][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]
rs2409120	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28482034	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28665409	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2956244	0.81[CEU][hapmap]
rs34004903	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34251783	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3855900	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3895823	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3989373	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840389	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4841083	0.84[CEU][hapmap]
rs6601279	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];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];0.81[EUR][1000 genomes]
rs6748	0.87[ASW][hapmap];0.93[CEU][hapmap];0.90[LWK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6981060	0.98[AMR][1000 genomes];0.98[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986044	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6987107	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005056	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005133	0.89[CEU][hapmap]
rs7009435	1.00[CHB][hapmap]
rs7014430	0.83[CEU][hapmap]
rs7017868	0.93[CEU][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7462373	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814328	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7836156	1.00[JPT][hapmap]
rs9329175	0.89[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs9650616	0.93[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11787026	C8orf13	cis	multi-tissue	Pritchard
rs11787026	DEFB134	cis	cerebellum	SCAN
rs11787026	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs11787026	FLJ10661	cis	cerebellum	SCAN
rs11787026	MFHAS1	cis	cerebellum	SCAN
rs11787026	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs11787026	PPP1R3B	cis	cerebellum	SCAN
rs11787026	TDH	cis	cerebellum	SCAN
rs11787026	CTSB	cis	cerebellum	SCAN
rs11787026	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 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	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
7	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
8	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
9	chr8:8891400-8915200	Weak transcription	K562	blood
10	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
11	chr8:8897800-8902400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:8898600-8905200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:8898800-8903800	Weak transcription	Fetal Heart	heart
15	chr8:8898800-8907200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:8899800-8902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:8899800-8907200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:8900000-8907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:8900000-8907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:8900200-8903200	Enhancers	NHEK	skin
22	chr8:8900200-8903800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:8900400-8903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:8900400-8905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:8900600-8907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:8901800-8903000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:8902000-8903000	Enhancers	GM12878-XiMat	blood
28	chr8:8902200-8903200	Enhancers	Placenta	Placenta

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