Variant report

Variant	rs61339333
Chromosome Location	chr2:100437497-100437498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100435277..100437585-chr2:100558410..100560429,2	MCF-7	breast:
2	chr2:100435483..100438030-chr2:100858556..100861072,2	MCF-7	breast:
3	chr2:100341920..100342745-chr2:100437245..100438185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232084	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12478013	0.84[AFR][1000 genomes]
rs13416974	0.82[AFR][1000 genomes]
rs1346619	1.00[AMR][1000 genomes]
rs1366763	0.81[AFR][1000 genomes]
rs4286327	0.83[AFR][1000 genomes]
rs5011805	1.00[AMR][1000 genomes]
rs57859098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60630243	1.00[AMR][1000 genomes]
rs61348969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706686	0.83[AMR][1000 genomes]
rs6707469	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6743473	0.84[AFR][1000 genomes]
rs72956193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7558416	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7608476	1.00[AFR][1000 genomes];1.00[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100420400-100439400	Weak transcription	Fetal Brain Female	brain
2	chr2:100423600-100454600	Weak transcription	Lung	lung
3	chr2:100424000-100443000	Weak transcription	Dnd41	blood
4	chr2:100424600-100438200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:100428000-100439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:100428000-100443000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:100428600-100443000	Weak transcription	Right Atrium	heart
8	chr2:100429000-100443000	Weak transcription	Aorta	Aorta
9	chr2:100430400-100442600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:100431000-100439200	Weak transcription	Fetal Heart	heart
11	chr2:100432000-100443000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:100432200-100443000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:100432800-100440400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:100433200-100441000	Weak transcription	Fetal Lung	lung
15	chr2:100433400-100442800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:100433800-100443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:100434400-100441400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:100434800-100443000	Weak transcription	Gastric	stomach
19	chr2:100434800-100443000	Weak transcription	Thymus	Thymus
20	chr2:100435800-100441200	Weak transcription	Liver	Liver
21	chr2:100436000-100439000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:100436400-100439000	Weak transcription	Fetal Stomach	stomach
23	chr2:100436400-100443000	Weak transcription	Ovary	ovary
24	chr2:100436600-100443200	Weak transcription	Fetal Thymus	thymus
25	chr2:100436800-100438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100436800-100438000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100436800-100438000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:100436800-100438200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:100436800-100439000	Weak transcription	Fetal Brain Male	brain
30	chr2:100437000-100438000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:100437200-100438400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:100437400-100438400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:100437400-100439000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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