Variant report

Variant	rs2188493
Chromosome Location	chr7:104016646-104016647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104015110..104017343-chr7:104021925..104024838,2	K562	blood:
2	chr7:104015338..104017844-chr7:104195492..104197847,2	K562	blood:
3	chr7:104015192..104017343-chr7:104023338..104025477,2	K562	blood:
4	chr7:104009174..104011745-chr7:104015096..104016988,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10228106	0.89[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs10249235	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs10254627	0.88[ASN][1000 genomes]
rs10487203	0.88[ASN][1000 genomes]
rs10953427	0.95[MEX][hapmap]
rs10953428	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]
rs10953432	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs1468143	0.91[MEX][hapmap]
rs1468144	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]
rs17390895	0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1989823	0.83[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2040584	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2188482	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs2188494	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]
rs2214086	0.89[CHB][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]
rs2214087	0.95[MEX][hapmap]
rs4236567	0.89[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4727596	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs4727599	0.83[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs4730001	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs4730002	0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs4730006	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs4730007	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs6465983	0.95[MEX][hapmap]
rs6465985	0.89[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs6946555	0.82[ASN][1000 genomes]
rs6951873	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs6952170	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs6959400	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs7778325	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs7798273	0.89[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]

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	nsv608067	chr7:103944237-104029408	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2188493	ACTL6B	cis	parietal	SCAN
rs2188493	SLC26A3	cis	cerebellum	SCAN
rs2188493	IL1RAPL1	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104016600-104016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104016600-104016800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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