Variant report

Variant	rs11782835
Chromosome Location	chr8:8914125-8914126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs11774244	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11775788	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11779660	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs11780338	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs11781203	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap]
rs13263364	1.00[CHB][hapmap]
rs1530484	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17155334	1.00[CHB][hapmap]
rs17646197	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17701980	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs28520356	0.84[AMR][1000 genomes]
rs34293316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55824072	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56109025	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56400435	0.83[AMR][1000 genomes]
rs58802611	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60551984	0.90[EUR][1000 genomes]
rs62493173	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6981610	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs6982619	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs6996374	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73518392	0.84[AMR][1000 genomes]
rs7826478	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs7828944	0.89[EUR][1000 genomes]
rs7830266	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs7846007	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs895253	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9329175	1.00[CHB][hapmap]
rs9987276	0.87[CEU][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11782835	DEFB136	cis	parietal	SCAN
rs11782835	MFHAS1	cis	cerebellum	SCAN
rs11782835	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs11782835	CTSB	cis	cerebellum	SCAN
rs11782835	SGK223	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
2	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
3	chr8:8891400-8915200	Weak transcription	K562	blood
4	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:8906200-8914600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:8907400-8915000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:8907600-8914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:8907600-8915000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:8908600-8914800	Weak transcription	NHDF-Ad	bronchial
10	chr8:8909000-8914800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:8911000-8914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:8911200-8914800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:8911200-8914800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:8911200-8915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:8911600-8914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:8911800-8914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:8912000-8914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:8913000-8914800	Weak transcription	Fetal Lung	lung
19	chr8:8913000-8915600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:8913200-8914600	Weak transcription	Placenta	Placenta
21	chr8:8913400-8915400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:8913600-8916400	Enhancers	Fetal Intestine Large	intestine
23	chr8:8913800-8914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:8913800-8914600	Weak transcription	Fetal Heart	heart
25	chr8:8913800-8914600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:8913800-8914600	Enhancers	Small Intestine	intestine
27	chr8:8913800-8914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:8913800-8915000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:8914000-8914600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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