Variant report

Variant	rs2216317
Chromosome Location	chr2:205505348-205505349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1016338	0.83[ASN][1000 genomes]
rs10186433	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10196457	0.83[EUR][1000 genomes]
rs10196548	0.83[EUR][1000 genomes]
rs10202248	0.82[EUR][1000 genomes]
rs10205296	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030087	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10804144	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11677461	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11688854	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691772	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11693425	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11893764	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11899398	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12468818	0.82[EUR][1000 genomes]
rs12613314	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694008	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12694009	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1477179	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549012	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549013	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549014	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2032691	0.82[EUR][1000 genomes]
rs2052349	0.86[EUR][1000 genomes]
rs2080601	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2098461	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2160689	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2335633	0.90[EUR][1000 genomes]
rs2335636	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3856507	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4675471	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4675472	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57951921	0.80[EUR][1000 genomes]
rs58858166	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61043122	0.82[EUR][1000 genomes]
rs6435249	0.82[EUR][1000 genomes]
rs6733714	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6742535	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750084	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6751181	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6753683	0.83[EUR][1000 genomes]
rs73059082	0.83[EUR][1000 genomes]
rs73059084	0.83[EUR][1000 genomes]
rs7577059	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593604	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7594540	0.87[EUR][1000 genomes]
rs9653326	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2216317	ALS2CR4	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205494200-205508800	Weak transcription	HSMM	muscle
2	chr2:205494200-205509800	Weak transcription	HSMMtube	muscle
3	chr2:205501200-205516600	Weak transcription	Aorta	Aorta
4	chr2:205502800-205508600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:205502800-205515000	Weak transcription	Psoas Muscle	Psoas
6	chr2:205503800-205506200	Weak transcription	Fetal Lung	lung
7	chr2:205503800-205506200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:205504000-205506200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:205504200-205516000	Weak transcription	Fetal Stomach	stomach
10	chr2:205504800-205505400	Enhancers	Right Ventricle	heart
11	chr2:205505000-205505400	Enhancers	Gastric	stomach
12	chr2:205505200-205505400	Enhancers	Stomach Smooth Muscle	stomach

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