Variant report

Variant	rs6743560
Chromosome Location	chr2:100744146-100744147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13414915	1.00[AMR][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17023418	1.00[EUR][1000 genomes]
rs17023423	1.00[EUR][1000 genomes]
rs17023450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs72954123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs995110	1.00[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

No data

Chromatin state (count:25 , 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	chr2:100735800-100744200	Strong transcription	Primary hematopoietic stem cells	blood
6	chr2:100736800-100747400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100739800-100746400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:100741200-100745400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:100741400-100747000	Strong transcription	Primary T cells from cord blood	blood
10	chr2:100741600-100745800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:100742000-100744200	Enhancers	Fetal Heart	heart
12	chr2:100742000-100746000	Strong transcription	Dnd41	blood
13	chr2:100742200-100747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:100742400-100747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100742400-100753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:100742400-100754000	Weak transcription	Gastric	stomach
17	chr2:100742800-100746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:100742800-100754000	Weak transcription	Lung	lung
19	chr2:100743000-100745000	Weak transcription	Thymus	Thymus
20	chr2:100743200-100751400	Weak transcription	Fetal Thymus	thymus
21	chr2:100743600-100744200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:100743600-100745200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:100743600-100745200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:100743800-100746000	Weak transcription	Fetal Brain Female	brain
25	chr2:100744000-100745800	Weak transcription	Fetal Brain Male	brain

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