Variant report

Variant	rs11123801
Chromosome Location	chr2:100476888-100476889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10191077	0.82[EUR][1000 genomes]
rs10194527	0.82[EUR][1000 genomes]
rs10199548	0.81[EUR][1000 genomes]
rs10865033	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10865034	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478013	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13416974	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13423929	0.80[EUR][1000 genomes]
rs1344701	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1344702	0.82[EUR][1000 genomes]
rs1346621	0.85[AMR][1000 genomes]
rs1366763	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1366766	0.82[EUR][1000 genomes]
rs1429268	0.81[EUR][1000 genomes]
rs1429269	0.81[EUR][1000 genomes]
rs1594111	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1594113	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2871310	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4286327	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4481043	0.82[EUR][1000 genomes]
rs4521099	0.82[EUR][1000 genomes]
rs4850916	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851235	0.82[EUR][1000 genomes]
rs6542900	0.82[EUR][1000 genomes]
rs6542901	0.81[EUR][1000 genomes]
rs6542902	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6723474	0.82[EUR][1000 genomes]
rs6725716	0.82[EUR][1000 genomes]
rs6743473	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747845	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558575	0.96[ASN][1000 genomes]
rs7560078	0.82[EUR][1000 genomes]
rs7586604	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7596023	0.82[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	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:26 , 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	chr2:100471400-100477600	Weak transcription	Fetal Heart	heart
4	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas
5	chr2:100474400-100479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:100474400-100481800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:100474600-100477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100474600-100481200	Weak transcription	Fetal Kidney	kidney
9	chr2:100474800-100481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100475000-100480400	Weak transcription	Gastric	stomach
11	chr2:100475400-100483800	Enhancers	Osteobl	bone
12	chr2:100475600-100477400	Genic enhancers	Primary B cells from cord blood	blood
13	chr2:100475600-100480400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:100475800-100477000	Weak transcription	Fetal Brain Female	brain
15	chr2:100475800-100477200	Weak transcription	Fetal Lung	lung
16	chr2:100475800-100477600	Weak transcription	Fetal Stomach	stomach
17	chr2:100475800-100481000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:100476000-100477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:100476000-100477400	Weak transcription	Fetal Brain Male	brain
20	chr2:100476000-100481000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:100476000-100481000	Weak transcription	Small Intestine	intestine
22	chr2:100476200-100477200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:100476200-100477400	Weak transcription	NH-A	brain
24	chr2:100476200-100480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:100476600-100477000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:100476800-100480800	Enhancers	Primary hematopoietic stem cells	blood

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