Variant report

Variant	rs17352234
Chromosome Location	chr2:100500042-100500043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes]
rs17351577	0.88[EUR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes]
rs17436127	0.88[EUR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147569	0.91[EUR][1000 genomes]
rs62147614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147649	0.91[EUR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes]
rs62150103	0.88[EUR][1000 genomes]
rs62150104	0.88[EUR][1000 genomes]
rs62150105	0.88[EUR][1000 genomes]
rs62150106	0.85[EUR][1000 genomes]
rs62150108	0.88[EUR][1000 genomes]
rs62150110	0.86[EUR][1000 genomes]
rs62150111	0.86[EUR][1000 genomes]
rs62150114	0.88[EUR][1000 genomes]
rs62150116	0.88[EUR][1000 genomes]
rs6711546	0.88[EUR][1000 genomes]
rs6755935	0.86[EUR][1000 genomes]
rs6761899	0.86[EUR][1000 genomes]
rs940459	0.85[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:41 , 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	chr2:100493800-100500600	Enhancers	HUVEC	blood vessel
3	chr2:100493800-100502200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:100494200-100500400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:100494400-100500600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:100494400-100500600	Enhancers	Fetal Kidney	kidney
7	chr2:100494400-100500600	Enhancers	Fetal Lung	lung
8	chr2:100494600-100500200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:100495200-100500400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:100495600-100500600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:100495600-100502800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:100496600-100502600	Enhancers	Fetal Heart	heart
13	chr2:100497200-100500200	Enhancers	Fetal Stomach	stomach
14	chr2:100497400-100500400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:100497400-100500600	Enhancers	Osteobl	bone
16	chr2:100497400-100501400	Weak transcription	Right Atrium	heart
17	chr2:100497600-100500600	Enhancers	NH-A	brain
18	chr2:100498000-100500400	Enhancers	Colon Smooth Muscle	Colon
19	chr2:100498000-100500600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:100498000-100500600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:100498400-100500200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:100498800-100507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:100499000-100500600	Enhancers	Fetal Brain Female	brain
24	chr2:100499000-100507000	Weak transcription	Left Ventricle	heart
25	chr2:100499000-100507400	Weak transcription	Liver	Liver
26	chr2:100499000-100514000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:100499200-100500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:100499200-100500800	Enhancers	Brain Germinal Matrix	brain
29	chr2:100499200-100501400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:100499200-100502800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
32	chr2:100499400-100501400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:100499400-100507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100499400-100507000	Weak transcription	Lung	lung
35	chr2:100499400-100507400	Weak transcription	Small Intestine	intestine
36	chr2:100499400-100509000	Weak transcription	Ovary	ovary
37	chr2:100499400-100510400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:100499400-100513800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:100499600-100501400	Enhancers	Fetal Brain Male	brain
40	chr2:100500000-100500200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:100500000-100504800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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