Variant report

Variant	rs17436782
Chromosome Location	chr2:100502798-100502799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10460488	0.86[EUR][1000 genomes]
rs13405175	0.88[EUR][1000 genomes]
rs13419977	0.86[EUR][1000 genomes]
rs13433082	0.86[EUR][1000 genomes]
rs17023084	0.86[EUR][1000 genomes]
rs17023253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023254	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023415	1.00[YRI][hapmap]
rs17351403	0.85[AMR][1000 genomes]
rs17351500	1.00[AMR][1000 genomes]
rs17351577	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17352234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436026	1.00[AMR][1000 genomes]
rs17436127	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436483	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17436594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436705	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17716597	0.85[AMR][1000 genomes]
rs34454377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147569	0.91[EUR][1000 genomes]
rs62147614	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147617	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147620	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147648	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147649	0.91[EUR][1000 genomes]
rs62150080	1.00[AMR][1000 genomes]
rs62150082	1.00[AMR][1000 genomes]
rs62150083	1.00[AMR][1000 genomes]
rs62150103	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150104	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150105	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150106	0.85[EUR][1000 genomes]
rs62150108	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150110	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62150111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62150114	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150116	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62156490	0.85[AMR][1000 genomes]
rs62156491	0.85[AMR][1000 genomes]
rs62156492	0.85[AMR][1000 genomes]
rs62156493	0.85[AMR][1000 genomes]
rs62156494	0.85[AMR][1000 genomes]
rs62156495	0.85[AMR][1000 genomes]
rs62156496	0.85[AMR][1000 genomes]
rs62156498	0.85[AMR][1000 genomes]
rs62156500	0.85[AMR][1000 genomes]
rs6711546	0.88[EUR][1000 genomes]
rs6755935	0.86[EUR][1000 genomes]
rs6761899	0.86[EUR][1000 genomes]
rs940459	1.00[AMR][1000 genomes];0.88[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	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100483000-100507200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:100495600-100502800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:100498800-100507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:100499000-100507000	Weak transcription	Left Ventricle	heart
5	chr2:100499000-100507400	Weak transcription	Liver	Liver
6	chr2:100499000-100514000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:100499200-100502800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
9	chr2:100499400-100507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100499400-100507000	Weak transcription	Lung	lung
11	chr2:100499400-100507400	Weak transcription	Small Intestine	intestine
12	chr2:100499400-100509000	Weak transcription	Ovary	ovary
13	chr2:100499400-100510400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:100499400-100513800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:100500000-100504800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:100500200-100507000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:100500200-100507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:100500600-100504200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:100500600-100506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:100500600-100507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:100500600-100507600	Weak transcription	Fetal Kidney	kidney
22	chr2:100500800-100507200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:100501400-100505200	Weak transcription	Fetal Brain Male	brain
24	chr2:100501400-100508400	Strong transcription	Primary B cells from cord blood	blood
25	chr2:100501800-100503000	Enhancers	Fetal Brain Female	brain
26	chr2:100501800-100503200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:100501800-100507000	Weak transcription	Right Atrium	heart
28	chr2:100502600-100506400	Weak transcription	Fetal Heart	heart

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