Variant report

Variant	rs72951661
Chromosome Location	chr2:100476004-100476005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58317583	1.00[AMR][1000 genomes]
rs7595119	1.00[AMR][1000 genomes]
rs7600371	1.00[AMR][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:28 , 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	chr2:100469000-100476200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:100471400-100477600	Weak transcription	Fetal Heart	heart
5	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas
6	chr2:100474400-100476600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:100474400-100479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:100474400-100481800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:100474600-100477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100474600-100481200	Weak transcription	Fetal Kidney	kidney
11	chr2:100474800-100481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100475000-100480400	Weak transcription	Gastric	stomach
13	chr2:100475400-100476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:100475400-100476200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:100475400-100476200	Enhancers	NH-A	brain
16	chr2:100475400-100476400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:100475400-100483800	Enhancers	Osteobl	bone
18	chr2:100475600-100476600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:100475600-100477400	Genic enhancers	Primary B cells from cord blood	blood
20	chr2:100475600-100480400	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:100475800-100477000	Weak transcription	Fetal Brain Female	brain
22	chr2:100475800-100477200	Weak transcription	Fetal Lung	lung
23	chr2:100475800-100477600	Weak transcription	Fetal Stomach	stomach
24	chr2:100475800-100481000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:100476000-100477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:100476000-100477400	Weak transcription	Fetal Brain Male	brain
27	chr2:100476000-100481000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:100476000-100481000	Weak transcription	Small Intestine	intestine

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