Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:42533518..42535270-chr3:42539632..42541675,2	MCF-7	breast:
2	chr3:42538804..42541639-chr3:42648578..42650101,2	MCF-7	breast:
3	chr3:42518620..42520531-chr3:42538511..42540228,2	MCF-7	breast:
4	chr3:42538031..42540547-chr3:42542886..42545653,3	MCF-7	breast:
5	chr3:42534099..42536839-chr3:42539322..42541423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72862506	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42534800-42542800	Weak transcription	Right Ventricle	heart
2	chr3:42535000-42543000	Weak transcription	Left Ventricle	heart
3	chr3:42535200-42542800	Weak transcription	Pancreas	Pancrea
4	chr3:42535600-42543000	Weak transcription	Lung	lung
5	chr3:42537600-42539800	Enhancers	Fetal Intestine Small	intestine
6	chr3:42538000-42540400	Enhancers	Fetal Heart	heart
7	chr3:42538400-42541200	Enhancers	NHEK	skin
8	chr3:42538400-42543000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:42538600-42540000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:42538600-42541000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:42538800-42540000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:42539000-42539800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:42539000-42539800	Enhancers	Brain Anterior Caudate	brain
14	chr3:42539000-42539800	Enhancers	Duodenum Mucosa	Duodenum
15	chr3:42539000-42540200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
16	chr3:42539000-42542800	Weak transcription	Gastric	stomach
17	chr3:42539200-42542400	Weak transcription	Right Atrium	heart
18	chr3:42539200-42542800	Weak transcription	Spleen	Spleen
19	chr3:42539600-42540000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:42539600-42540200	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:42539600-42540400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

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