Variant report

Variant	rs4256922
Chromosome Location	chr10:52568616-52568617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52568484..52571195-chr10:52609335..52611357,3	K562	blood:
2	chr10:52568068..52571258-chr10:52571525..52575297,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10740041	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821826	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16914267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820743	0.82[EUR][1000 genomes]
rs2820760	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap]
rs4078160	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245007	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4245008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382847	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4445583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466777	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497350	0.90[MEX][hapmap]
rs4619096	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935002	0.83[ASN][1000 genomes]
rs4935190	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61857132	0.80[EUR][1000 genomes]
rs6479731	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072584	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084132	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4256922	ASAH2	cis	Thyroid	GTEx
rs4256922	ASAH2	cis	Adipose Subcutaneous	GTEx
rs4256922	ASAH2B	cis	Esophagus Muscularis	GTEx
rs4256922	ASAH2B	cis	Thyroid	GTEx
rs4256922	ASAH2B	cis	Muscle Skeletal	GTEx
rs4256922	ASAH2B	cis	lung	GTEx
rs4256922	ASAH2B	cis	Artery Tibial	GTEx
rs4256922	ASAH2	cis	Artery Tibial	GTEx
rs4256922	ASAH2B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52555200-52575800	Weak transcription	Pancreas	Pancrea
2	chr10:52563800-52569400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:52565800-52575400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:52565800-52592000	Weak transcription	Stomach Mucosa	stomach
5	chr10:52567200-52569200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:52567200-52574800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:52567400-52569400	Weak transcription	Fetal Intestine Small	intestine
8	chr10:52567400-52569600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:52567400-52570000	Enhancers	Liver	Liver
10	chr10:52567600-52568800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:52567600-52569200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:52567600-52569800	Genic enhancers	HepG2	liver
13	chr10:52568200-52569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:52568400-52569600	Weak transcription	NHDF-Ad	bronchial
15	chr10:52568400-52571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:52568600-52569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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