Variant report

Variant	rs7620601
Chromosome Location	chr3:112371578-112371579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112358658..112361314-chr3:112370699..112373290,3	MCF-7	breast:
2	chr3:112363786..112368966-chr3:112369502..112375118,11	MCF-7	breast:
3	chr3:112362097..112368318-chr3:112369170..112375638,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs6438087	0.87[TSI][hapmap]
rs9815819	0.87[TSI][hapmap]
rs9870933	0.85[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7620601	BOC	cis	cerebellum	SCAN
rs7620601	ESAM	trans	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112363400-112373600	Weak transcription	Esophagus	oesophagus
2	chr3:112364600-112372800	Enhancers	Osteobl	bone
3	chr3:112366400-112372000	Weak transcription	Fetal Lung	lung
4	chr3:112366400-112372400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:112366400-112372600	Enhancers	NHDF-Ad	bronchial
6	chr3:112366400-112373800	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:112367000-112371800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:112367000-112371800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:112367000-112373800	Enhancers	HSMM	muscle
10	chr3:112367600-112372200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:112367800-112372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:112368000-112372200	Enhancers	NHEK	skin
13	chr3:112368000-112372800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:112368000-112375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:112368200-112372600	Enhancers	HSMMtube	muscle
16	chr3:112368200-112372800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:112368200-112375200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:112368400-112371800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:112368400-112371800	Weak transcription	Placenta	Placenta
20	chr3:112368600-112372000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:112368600-112373600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:112369800-112371800	Weak transcription	Adipose Nuclei	Adipose
23	chr3:112370200-112371800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:112370600-112371600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:112370600-112371800	Weak transcription	NHLF	lung
26	chr3:112370800-112371800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:112370800-112371800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:112370800-112371800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:112370800-112371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:112370800-112371800	Weak transcription	NH-A	brain
31	chr3:112370800-112372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:112371400-112371600	Enhancers	A549	lung
33	chr3:112371400-112372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:112371400-112375200	Enhancers	HMEC	breast

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