Variant report

Variant	rs7595916
Chromosome Location	chr2:100423542-100423543
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	chr2:100252844..100253666-chr2:100422970..100423881,3	MCF-7	breast:
2	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]
rs11888410	0.80[AFR][1000 genomes]
rs17023090	1.00[AFR][1000 genomes]
rs60355271	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:20 , 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	chr2:100420800-100424200	Enhancers	NHDF-Ad	bronchial
4	chr2:100420800-100431800	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100421000-100427600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:100421800-100426800	Enhancers	Osteobl	bone
7	chr2:100422000-100424200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:100422200-100423800	Enhancers	Fetal Brain Male	brain
9	chr2:100422200-100424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:100422200-100424600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:100422600-100424600	Enhancers	NH-A	brain
12	chr2:100422800-100423600	Enhancers	Lung	lung
13	chr2:100422800-100424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:100422800-100424200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:100423200-100424000	Strong transcription	Dnd41	blood
16	chr2:100423200-100424000	Enhancers	HSMM	muscle
17	chr2:100423200-100424600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:100423400-100423600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:100423400-100423800	Enhancers	Fetal Heart	heart
20	chr2:100423400-100424000	Strong transcription	Primary hematopoietic stem cells	blood

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