Variant report

Variant	rs1543254
Chromosome Location	chr2:100346204-100346205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10167011	0.97[ASN][1000 genomes]
rs10191816	0.82[AFR][1000 genomes]
rs10199818	0.81[AFR][1000 genomes]
rs11123795	0.82[AFR][1000 genomes]
rs11690403	0.86[AFR][1000 genomes]
rs11888741	0.82[AFR][1000 genomes]
rs12712059	0.84[AFR][1000 genomes]
rs13010551	0.82[AFR][1000 genomes]
rs13402908	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1404175	0.82[AFR][1000 genomes]
rs1404177	0.84[AFR][1000 genomes]
rs1961081	0.81[ASN][1000 genomes]
rs2043007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082040	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309723	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2309730	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3863005	0.84[AFR][1000 genomes]
rs4851225	0.82[AFR][1000 genomes]
rs4851226	0.84[AFR][1000 genomes]
rs4851228	0.82[AFR][1000 genomes]
rs4851230	0.83[AFR][1000 genomes]
rs6715849	0.81[EUR][1000 genomes]
rs6739478	0.82[AFR][1000 genomes]
rs6739601	0.84[AFR][1000 genomes]
rs6741990	0.84[AFR][1000 genomes]
rs6756009	0.85[AFR][1000 genomes]
rs6757262	0.82[AFR][1000 genomes]
rs7582469	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100343200-100347600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:100343600-100346800	Enhancers	Fetal Brain Male	brain
3	chr2:100343800-100346600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:100344000-100360200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:100344200-100346400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:100344200-100346600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:100344400-100346400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:100344400-100346400	Enhancers	Left Ventricle	heart
9	chr2:100344400-100346400	Enhancers	Ovary	ovary
10	chr2:100344400-100346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100344400-100346800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:100344400-100347400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:100344600-100346600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:100344800-100346800	Enhancers	Fetal Heart	heart
15	chr2:100344800-100346800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:100345000-100346600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:100345400-100346400	Enhancers	Fetal Stomach	stomach
18	chr2:100345400-100346800	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:100345600-100346400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:100345600-100350000	Weak transcription	Primary B cells from cord blood	blood
21	chr2:100345800-100346600	Weak transcription	Fetal Brain Female	brain
22	chr2:100345800-100346600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:100346000-100350200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:100346200-100379400	Weak transcription	Fetal Lung	lung

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