Variant report

Variant	rs11680586
Chromosome Location	chr2:100746207-100746208
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100740146..100742521-chr2:100744852..100747122,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11123808	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11677607	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679078	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11680485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682173	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11686599	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689956	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691486	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11692215	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12712069	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712072	0.85[EUR][1000 genomes]
rs13000759	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13010436	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13011181	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13011874	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13019618	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13022707	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13028981	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3748927	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4850920	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4851254	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4851262	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6713524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7583067	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7596385	0.80[AMR][1000 genomes];0.90[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	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	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11680586	SNRNP200	cis	parietal	SCAN
rs11680586	AFF3	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100730800-100746400	Weak transcription	Spleen	Spleen
2	chr2:100732000-100749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100732000-100754400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:100734400-100748000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:100736800-100747400	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100739800-100746400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:100741400-100747000	Strong transcription	Primary T cells from cord blood	blood
8	chr2:100742200-100747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:100742400-100747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100742400-100753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:100742400-100754000	Weak transcription	Gastric	stomach
12	chr2:100742800-100746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100742800-100754000	Weak transcription	Lung	lung
14	chr2:100743200-100751400	Weak transcription	Fetal Thymus	thymus
15	chr2:100744200-100751400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:100745000-100747000	Strong transcription	Thymus	Thymus
17	chr2:100745200-100750200	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr2:100745400-100751200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:100745800-100746800	Enhancers	Fetal Brain Male	brain
20	chr2:100745800-100751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:100746000-100746800	Enhancers	Fetal Brain Female	brain
22	chr2:100746000-100751400	Weak transcription	Dnd41	blood
23	chr2:100746200-100764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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