Variant report

Variant	rs11985898
Chromosome Location	chr8:38966013-38966014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10092021	0.87[EUR][1000 genomes]
rs10809000	0.81[JPT][hapmap]
rs10809001	0.87[EUR][1000 genomes]
rs11784624	0.82[CEU][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs12056655	0.81[MEX][hapmap]
rs12156418	0.87[EUR][1000 genomes]
rs12541231	0.81[MEX][hapmap]
rs13256952	0.81[MEX][hapmap]
rs13268394	0.81[MEX][hapmap]
rs28434452	0.86[EUR][1000 genomes]
rs28563781	0.87[EUR][1000 genomes]
rs28564878	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28868044	0.87[EUR][1000 genomes]
rs4075849	0.82[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs4129095	0.81[MEX][hapmap]
rs4269506	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4517088	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4615534	0.82[CEU][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733904	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733905	0.81[MEX][hapmap]
rs4733971	0.86[EUR][1000 genomes]
rs55797573	0.81[EUR][1000 genomes]
rs59118660	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59814883	0.86[EUR][1000 genomes]
rs6474525	0.82[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs67200247	0.87[EUR][1000 genomes]
rs6991383	0.81[JPT][hapmap];0.85[TSI][hapmap]
rs7013358	0.86[EUR][1000 genomes]
rs7015505	0.87[TSI][hapmap]
rs7464810	0.87[EUR][1000 genomes]
rs7818363	0.81[JPT][hapmap]
rs7821437	0.81[JPT][hapmap]
rs7832284	0.82[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs7834967	0.81[JPT][hapmap]
rs7840044	0.80[JPT][hapmap];0.85[TSI][hapmap]
rs9650347	0.82[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11985898	ADAM32	cis	Adipose Subcutaneous	GTEx
rs11985898	TM2D2	cis	parietal	SCAN
rs11985898	ADAM5P	cis	parietal	SCAN
rs11985898	ADAM9	cis	parietal	SCAN
rs11985898	ADAM32	cis	Nerve Tibial	GTEx
rs11985898	ADAM32	cis	parietal	SCAN
rs11985898	ADAM32	cis	Thyroid	GTEx
rs11985898	ADAM32	cis	Artery Tibial	GTEx
rs11985898	TM2D2	cis	cerebellum	SCAN
rs11985898	ADAM32	cis	Esophagus Muscularis	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38919000-38970400	Weak transcription	K562	blood
2	chr8:38961000-38966200	Weak transcription	HepG2	liver
3	chr8:38961200-38970200	Weak transcription	HMEC	breast
4	chr8:38961600-38970000	Weak transcription	GM12878-XiMat	blood
5	chr8:38962800-38966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:38963200-38966200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:38963200-38970000	Weak transcription	NH-A	brain
8	chr8:38964200-38970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:38964400-38970400	Weak transcription	HSMM	muscle
10	chr8:38964800-38970000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:38965000-38966800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:38965200-38968000	Weak transcription	A549	lung
13	chr8:38965400-38967200	Weak transcription	Stomach Mucosa	stomach
14	chr8:38965400-38970200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:38965400-38970200	Weak transcription	HUVEC	blood vessel
16	chr8:38965600-38970000	Weak transcription	NHLF	lung
17	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:38965800-38966200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:38965800-38966200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:38965800-38967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:38965800-38968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:38965800-38970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:38965800-38970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:38965800-38970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:38966000-38970200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:38966000-38970400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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