Variant report

Variant	rs2907385
Chromosome Location	chr17:66587130-66587131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12452734	1.00[CHB][hapmap]
rs2952308	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744503	0.91[CEU][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes]
rs9675199	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9890441	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][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	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2907385	ICAM2	cis	parietal	SCAN
rs2907385	ABCA9	cis	parietal	SCAN
rs2907385	ABCA6	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:66572200-66591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
6	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:66581400-66590400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:66582000-66587800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:66582000-66591800	Weak transcription	Left Ventricle	heart
10	chr17:66582200-66589000	Weak transcription	Fetal Heart	heart
11	chr17:66582200-66592600	Weak transcription	Gastric	stomach
12	chr17:66583000-66588800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:66583800-66589000	Weak transcription	Brain Angular Gyrus	brain
14	chr17:66584200-66588600	Genic enhancers	Liver	Liver
15	chr17:66584400-66587800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:66584600-66588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:66585400-66592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:66585400-66594200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:66585600-66587600	Weak transcription	Osteobl	bone
20	chr17:66585600-66587800	Weak transcription	NHDF-Ad	bronchial
21	chr17:66585600-66590000	Weak transcription	Fetal Thymus	thymus
22	chr17:66585600-66591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:66585600-66591600	Weak transcription	Aorta	Aorta
24	chr17:66585600-66591600	Weak transcription	Lung	lung
25	chr17:66585800-66587200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:66586400-66587800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr17:66586600-66591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:66586600-66591200	Weak transcription	Spleen	Spleen
29	chr17:66586800-66587200	Genic enhancers	HepG2	liver
30	chr17:66587000-66587400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:66587000-66588000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr17:66587000-66588800	Enhancers	Placenta	Placenta

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