Variant report

Variant	rs62513283
Chromosome Location	chr8:39897267-39897268
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	chr8:39895604..39898278-chr8:40014313..40017201,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10958586	0.87[ASN][1000 genomes]
rs10958587	0.81[ASN][1000 genomes]
rs10958589	0.81[ASN][1000 genomes]
rs2929117	0.94[ASN][1000 genomes]
rs2981163	0.82[ASN][1000 genomes]
rs3892719	0.92[ASN][1000 genomes]
rs4321987	0.82[ASN][1000 genomes]
rs4503083	0.89[ASN][1000 genomes]
rs62511408	0.88[ASN][1000 genomes]
rs62511443	0.94[ASN][1000 genomes]
rs62513280	0.99[ASN][1000 genomes]
rs62513281	0.99[ASN][1000 genomes]
rs62513282	0.99[ASN][1000 genomes]
rs6991166	0.81[ASN][1000 genomes]
rs7004652	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39891400-39898400	Weak transcription	Pancreas	Pancrea
2	chr8:39892600-39897800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:39892600-39898200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:39893600-39898400	Weak transcription	Liver	Liver
5	chr8:39893600-39898400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:39893800-39897600	Weak transcription	HepG2	liver
7	chr8:39894200-39897800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:39894400-39897800	Weak transcription	Hela-S3	cervix
9	chr8:39895000-39900000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:39895400-39899600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:39895600-39897400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:39895800-39897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:39895800-39899200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:39896000-39898400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:39896200-39897600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:39896200-39897800	Weak transcription	A549	lung
17	chr8:39896200-39898000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:39896200-39898600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:39896400-39898000	Weak transcription	Stomach Mucosa	stomach
20	chr8:39896400-39898600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:39896800-39899400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:39896800-39899600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:39896800-39899600	Enhancers	Fetal Lung	lung
24	chr8:39897000-39897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:39897000-39899200	Enhancers	Fetal Intestine Small	intestine
26	chr8:39897200-39897400	Weak transcription	Placenta	Placenta
27	chr8:39897200-39899600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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