Variant report

Variant	rs62320498
Chromosome Location	chr4:125856719-125856720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
2	chr4:125632485..125635693-chr4:125853926..125858479,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10004729	0.86[EUR][1000 genomes]
rs10004734	0.86[EUR][1000 genomes]
rs10030199	0.86[EUR][1000 genomes]
rs12374334	0.83[EUR][1000 genomes]
rs12506706	0.91[EUR][1000 genomes]
rs12650300	0.86[EUR][1000 genomes]
rs1395328	0.91[EUR][1000 genomes]
rs1483611	0.90[EUR][1000 genomes]
rs16997819	0.86[EUR][1000 genomes]
rs17008768	0.89[EUR][1000 genomes]
rs1909101	0.91[EUR][1000 genomes]
rs1995628	0.85[EUR][1000 genomes]
rs28733838	0.86[EUR][1000 genomes]
rs35052952	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62320480	0.87[EUR][1000 genomes]
rs62323305	0.85[EUR][1000 genomes]
rs6810487	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6826258	0.86[EUR][1000 genomes]
rs6829998	0.89[EUR][1000 genomes]
rs72685850	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7672680	0.90[EUR][1000 genomes]
rs7677690	0.86[EUR][1000 genomes]
rs7677713	0.86[EUR][1000 genomes]
rs9637630	0.89[EUR][1000 genomes]
rs9654205	0.86[EUR][1000 genomes]
rs976412	0.91[EUR][1000 genomes]
rs976539	0.91[EUR][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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125845600-125857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:125852400-125857200	Weak transcription	HSMMtube	muscle
4	chr4:125852800-125857800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:125853000-125857400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:125853000-125857400	Weak transcription	Osteobl	bone
7	chr4:125853200-125859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:125854200-125857600	Weak transcription	Pancreas	Pancrea
9	chr4:125855200-125858000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:125855600-125858000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:125855600-125858200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:125856000-125856800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:125856200-125856800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:125856200-125856800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:125856200-125857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:125856200-125858000	Enhancers	Brain Germinal Matrix	brain
17	chr4:125856200-125859000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:125856200-125859200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:125856200-125860600	Enhancers	Fetal Muscle Leg	muscle
20	chr4:125856200-125866800	Enhancers	Hela-S3	cervix
21	chr4:125856400-125860400	Weak transcription	NHEK	skin
22	chr4:125856600-125857400	Weak transcription	Ovary	ovary
23	chr4:125856600-125857800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:125856600-125857800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:125856600-125858200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:125856600-125858800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:125856600-125858800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:125856600-125859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:125856600-125859800	Enhancers	Fetal Heart	heart
30	chr4:125856600-125860600	Weak transcription	Right Ventricle	heart

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