Variant report

Variant	rs1346621
Chromosome Location	chr2:100453048-100453049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10191077	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10194527	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10199548	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10865033	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10865034	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11123801	0.85[AMR][1000 genomes]
rs12478013	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12712060	0.83[ASN][1000 genomes]
rs13416974	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13423929	0.86[EUR][1000 genomes]
rs1344701	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1344702	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346619	0.88[AFR][1000 genomes]
rs1366763	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1366766	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1429268	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1429269	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1594111	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1594113	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1608640	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2043006	0.85[EUR][1000 genomes]
rs2871310	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4286327	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4481043	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4521099	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4850916	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851234	0.83[EUR][1000 genomes]
rs4851235	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5011805	0.87[AFR][1000 genomes]
rs6542900	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6542901	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542902	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6542903	0.92[EUR][1000 genomes]
rs6723474	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6725716	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6732358	0.82[EUR][1000 genomes]
rs6743473	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6747845	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6756821	0.80[EUR][1000 genomes]
rs7558575	0.80[AMR][1000 genomes]
rs7560078	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7573572	0.83[EUR][1000 genomes]
rs7586604	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7596023	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv2845	chr2:100421826-100466558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	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	chr2:100423600-100454600	Weak transcription	Lung	lung
2	chr2:100443600-100454200	Weak transcription	Gastric	stomach
3	chr2:100443800-100496800	Weak transcription	Ovary	ovary
4	chr2:100444000-100456400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:100444400-100465600	Weak transcription	Liver	Liver
6	chr2:100444600-100454000	Weak transcription	Fetal Thymus	thymus
7	chr2:100445000-100453200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:100445000-100456000	Weak transcription	Dnd41	blood
9	chr2:100445000-100460600	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100445200-100453400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:100445200-100454200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:100445200-100458000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:100447400-100459800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100449400-100458000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:100450600-100466200	Weak transcription	Fetal Kidney	kidney
16	chr2:100450800-100453400	Weak transcription	Fetal Brain Male	brain
17	chr2:100451000-100453200	Weak transcription	Fetal Brain Female	brain
18	chr2:100451400-100454200	Weak transcription	Fetal Lung	lung
19	chr2:100451800-100456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:100452000-100453200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:100452200-100453200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:100452400-100454000	Weak transcription	Thymus	Thymus
23	chr2:100452400-100454200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:100452400-100457200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:100452600-100453200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:100452600-100453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:100452800-100453400	Weak transcription	Primary T cells from cord blood	blood
28	chr2:100453000-100453800	Enhancers	Osteobl	bone

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