Variant report

Variant	rs2309837
Chromosome Location	chr2:100837567-100837568
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	chr2:100828123..100832534-chr2:100834410..100837969,5	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10167029	0.86[ASN][1000 genomes]
rs10167279	0.87[ASN][1000 genomes]
rs10194635	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496345	0.84[ASN][1000 genomes]
rs10865035	0.94[ASN][1000 genomes]
rs11123817	0.85[ASN][1000 genomes]
rs1122231	0.85[ASN][1000 genomes]
rs1160542	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1160543	0.85[ASN][1000 genomes]
rs1160544	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160545	0.85[ASN][1000 genomes]
rs11676922	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11677053	0.80[ASN][1000 genomes]
rs11678979	0.81[ASN][1000 genomes]
rs11684761	0.84[ASN][1000 genomes]
rs11686372	0.84[ASN][1000 genomes]
rs11687241	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11689199	0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11689201	0.85[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11690335	0.84[ASN][1000 genomes]
rs11691409	0.84[ASN][1000 genomes]
rs11691869	0.80[ASN][1000 genomes]
rs11693324	0.84[ASN][1000 genomes]
rs11695383	0.84[ASN][1000 genomes]
rs12619178	0.85[ASN][1000 genomes]
rs12712073	0.87[ASN][1000 genomes]
rs12987662	0.85[ASN][1000 genomes]
rs12990462	0.84[ASN][1000 genomes]
rs12991254	0.84[ASN][1000 genomes]
rs12992090	0.84[ASN][1000 genomes]
rs13013169	0.80[ASN][1000 genomes]
rs13017207	0.84[ASN][1000 genomes]
rs13018640	0.85[ASN][1000 genomes]
rs13026283	0.84[ASN][1000 genomes]
rs13034176	0.85[ASN][1000 genomes]
rs1465800	0.85[ASN][1000 genomes]
rs1465801	0.85[ASN][1000 genomes]
rs2309757	0.80[ASN][1000 genomes]
rs2309838	0.85[ASN][1000 genomes]
rs2871344	0.85[ASN][1000 genomes]
rs4303732	0.85[ASN][1000 genomes]
rs4583487	0.85[ASN][1000 genomes]
rs4851264	0.81[ASN][1000 genomes]
rs4851266	0.84[ASN][1000 genomes]
rs4851267	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs4851268	0.84[ASN][1000 genomes]
rs4851269	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851270	0.85[ASN][1000 genomes]
rs4851271	0.85[ASN][1000 genomes]
rs6542920	0.80[ASN][1000 genomes]
rs6709656	0.80[ASN][1000 genomes]
rs6712515	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6722661	0.80[ASN][1000 genomes]
rs6740612	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740838	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750097	0.85[ASN][1000 genomes]
rs6754937	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566527	0.81[ASN][1000 genomes]
rs7580200	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs893245	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9653442	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs999052	0.85[ASN][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2309837	ASTL	cis	cerebellum	SCAN
rs2309837	AFF3	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100831400-100840200	Weak transcription	Lung	lung
2	chr2:100831800-100840200	Weak transcription	Right Atrium	heart
3	chr2:100834200-100840200	Weak transcription	Right Ventricle	heart
4	chr2:100837200-100837600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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