Variant report

Variant	rs6013808
Chromosome Location	chr20:52441861-52441862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57183000..57185082-chr20:52441701..52443951,2	MCF-7	breast:
2	chr20:52440503..52443336-chr20:55849623..55851962,2	MCF-7	breast:
3	chr20:45984957..45987024-chr20:52440413..52442622,2	MCF-7	breast:
4	chr20:52437756..52442590-chr20:55839801..55843597,5	MCF-7	breast:
5	chr17:56707305..56708975-chr20:52440122..52442979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2097849	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2191395	0.80[AMR][1000 genomes]
rs2215401	0.80[AMR][1000 genomes]
rs2215402	0.88[ASN][1000 genomes]
rs2215403	0.80[AMR][1000 genomes]
rs4437022	0.93[ASN][1000 genomes]
rs4809939	0.80[AMR][1000 genomes]
rs4811472	0.80[AMR][1000 genomes]
rs6022757	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6022758	0.87[ASN][1000 genomes]
rs6022759	0.87[ASN][1000 genomes]
rs6022760	0.87[ASN][1000 genomes]
rs6022761	0.80[AMR][1000 genomes]
rs6022779	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6022782	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6022786	0.83[EUR][1000 genomes]
rs6064007	0.88[AMR][1000 genomes]
rs6064008	0.88[AMR][1000 genomes]
rs6068679	0.91[AMR][1000 genomes]
rs6068680	0.91[AMR][1000 genomes]
rs6068681	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6091748	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52435400-52442200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:52437600-52442600	Weak transcription	Pancreas	Pancrea
4	chr20:52440000-52442600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:52440000-52444800	Weak transcription	Thymus	Thymus
6	chr20:52440800-52445400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:52441000-52443000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:52441000-52445000	Enhancers	Fetal Stomach	stomach
9	chr20:52441200-52446000	Enhancers	HepG2	liver
10	chr20:52441400-52442000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr20:52441400-52442000	Enhancers	Small Intestine	intestine
12	chr20:52441400-52442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:52441400-52442600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:52441400-52443200	Weak transcription	Fetal Intestine Small	intestine
15	chr20:52441400-52443200	Enhancers	A549	lung
16	chr20:52441400-52443800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr20:52441600-52444600	Weak transcription	Colon Smooth Muscle	Colon
18	chr20:52441600-52445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr20:52441800-52443400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:52441800-52444400	Enhancers	Fetal Lung	lung

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