Variant report

Variant	rs57467846
Chromosome Location	chr5:95511769-95511770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95295813..95297730-chr5:95509691..95513158,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction
ENSG00000251314	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1123374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4601060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57021317	1.00[AMR][1000 genomes]
rs57603024	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59661671	1.00[AMR][1000 genomes]
rs59889977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7707192	0.85[AFR][1000 genomes]
rs7720478	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035022	chr5:95487901-95526796	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95506800-95512000	Weak transcription	Liver	Liver
2	chr5:95508600-95515200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95508800-95512000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:95508800-95512200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95509000-95512000	Weak transcription	NHDF-Ad	bronchial
6	chr5:95509000-95512000	Weak transcription	Osteobl	bone
7	chr5:95509000-95512400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:95509000-95513000	Weak transcription	HSMM	muscle
9	chr5:95509000-95513000	Weak transcription	HSMMtube	muscle
10	chr5:95509000-95513000	Weak transcription	NH-A	brain
11	chr5:95509000-95515200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:95509200-95512800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:95510200-95513000	Weak transcription	Pancreas	Pancrea
14	chr5:95510800-95512000	Enhancers	GM12878-XiMat	blood
15	chr5:95511000-95512000	Weak transcription	Stomach Mucosa	stomach
16	chr5:95511000-95513400	Enhancers	NHEK	skin
17	chr5:95511000-95515600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:95511200-95512200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:95511200-95512200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:95511200-95512200	Enhancers	Fetal Lung	lung
21	chr5:95511200-95512800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:95511200-95512800	Enhancers	HMEC	breast
23	chr5:95511200-95513200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:95511200-95513400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:95511200-95513800	Enhancers	HepG2	liver
26	chr5:95511200-95515400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:95511400-95513000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95511600-95511800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:95511600-95511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:95511600-95512200	Enhancers	Fetal Intestine Small	intestine
31	chr5:95511600-95512400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr5:95511600-95513600	Enhancers	NHLF	lung

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