Variant report

Variant	rs1594113
Chromosome Location	chr2:100472454-100472455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10191077	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10194527	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10198310	0.82[ASN][1000 genomes]
rs10199548	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10204617	0.82[ASN][1000 genomes]
rs10496340	0.82[ASN][1000 genomes]
rs10865032	0.81[ASN][1000 genomes]
rs10865033	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10865034	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11123796	0.82[ASN][1000 genomes]
rs11123801	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12478013	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712060	0.90[ASN][1000 genomes]
rs13416974	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13423929	0.93[EUR][1000 genomes]
rs1344701	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1344702	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1346619	0.85[AFR][1000 genomes]
rs1346621	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1366761	0.82[ASN][1000 genomes]
rs1366763	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366766	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1429268	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1429269	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1594111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608640	0.82[ASN][1000 genomes]
rs2043006	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2115600	0.82[ASN][1000 genomes]
rs2309650	0.82[ASN][1000 genomes]
rs2871310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286327	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481043	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521099	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4850916	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4851231	0.80[ASN][1000 genomes]
rs4851234	0.80[EUR][1000 genomes]
rs4851235	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5011805	0.83[AFR][1000 genomes]
rs62147565	0.82[ASN][1000 genomes]
rs6542900	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542901	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542902	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6542903	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6723474	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725716	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743473	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6747845	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7558575	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7560078	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566083	0.83[ASN][1000 genomes]
rs7573572	0.80[EUR][1000 genomes]
rs7586604	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7596023	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9967704	0.82[ASN][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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100443800-100496800	Weak transcription	Ovary	ovary
2	chr2:100454600-100477400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100461800-100472600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100469000-100476200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100469200-100473000	Weak transcription	Fetal Lung	lung
6	chr2:100469200-100474400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100471000-100474200	Weak transcription	Fetal Brain Female	brain
8	chr2:100471200-100475400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:100471400-100475600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:100471400-100477600	Weak transcription	Fetal Heart	heart
11	chr2:100471600-100474400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:100471600-100474400	Weak transcription	Fetal Brain Male	brain
13	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas

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