Variant report

Variant	rs72817100
Chromosome Location	chr2:100426114-100426115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2163042	1.00[AFR][1000 genomes]
rs72817082	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819144	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100418200-100429400	Weak transcription	Fetal Lung	lung
2	chr2:100420400-100439400	Weak transcription	Fetal Brain Female	brain
3	chr2:100420800-100431800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100421000-100427600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:100421800-100426800	Enhancers	Osteobl	bone
6	chr2:100423600-100426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:100423600-100454600	Weak transcription	Lung	lung
8	chr2:100423800-100428000	Weak transcription	Fetal Heart	heart
9	chr2:100423800-100434600	Weak transcription	Fetal Brain Male	brain
10	chr2:100424000-100427200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100424000-100428000	Weak transcription	HSMM	muscle
12	chr2:100424000-100443000	Weak transcription	Dnd41	blood
13	chr2:100424200-100428000	Weak transcription	NHDF-Ad	bronchial
14	chr2:100424200-100436200	Weak transcription	Primary T cells from cord blood	blood
15	chr2:100424600-100426600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:100424600-100426800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:100424600-100438200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:100425000-100428800	Enhancers	NH-A	brain
19	chr2:100425200-100426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:100425400-100426200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:100425600-100426800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:100425600-100426800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100425600-100426800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:100425800-100426200	Enhancers	Fetal Kidney	kidney
25	chr2:100425800-100428400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:100426000-100426400	Enhancers	Cortex derived primary cultured neurospheres	brain

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