Variant report

Variant	rs6047614
Chromosome Location	chr20:21748464-21748465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:21620931..21622045-chr20:21748060..21748869,7	MCF-7	breast:
2	chr20:21683584..21684226-chr20:21748435..21748950,2	K562	blood:
3	chr20:21748036..21748770-chr20:22086694..22087215,2	MCF-7	breast:
4	chr20:21699898..21700892-chr20:21748004..21749123,5	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13039232	1.00[AMR][1000 genomes]
rs17861040	1.00[AMR][1000 genomes]
rs17861046	1.00[AMR][1000 genomes]
rs2876613	1.00[AMR][1000 genomes]
rs6047611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7264084	1.00[AMR][1000 genomes]
rs7266680	1.00[AMR][1000 genomes]
rs7270607	1.00[AMR][1000 genomes]
rs8118731	1.00[AMR][1000 genomes]
rs8121350	1.00[AMR][1000 genomes]
rs8122115	1.00[AMR][1000 genomes]
rs8122299	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr20:21748000-21748800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:21748000-21748800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr20:21748000-21748800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:21748200-21748600	Enhancers	Adipose Nuclei	Adipose
5	chr20:21748200-21748600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr20:21748200-21748800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:21748200-21748800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr20:21748200-21749000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr20:21748400-21748600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr20:21748400-21748600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:21748400-21748600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr20:21748400-21748600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr20:21748400-21748600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr20:21748400-21748600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr20:21748400-21748600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr20:21748400-21748800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:21748400-21748800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:21748400-21748800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr20:21748400-21748800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:21748400-21748800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr20:21748400-21748800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr20:21748400-21748800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr20:21748400-21748800	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr20:21748400-21748800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr20:21748400-21748800	Enhancers	Pancreas	Pancrea
26	chr20:21748400-21748800	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr20:21748400-21749000	Enhancers	Placenta	Placenta

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