Variant report

Variant	rs6022734
Chromosome Location	chr20:52387861-52387862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:46394352..46396448-chr20:52385967..52388238,2	MCF-7	breast:
2	chr20:52386895..52389941-chr20:55840050..55842115,3	MCF-7	breast:
3	chr20:52386923..52389172-chr20:52424998..52427663,3	K562	blood:
4	chr20:52379143..52382033-chr20:52386733..52389199,2	K562	blood:
5	chr17:57920548..57922707-chr20:52385472..52388413,2	MCF-7	breast:
6	chr20:52368793..52371515-chr20:52386888..52389053,2	K562	blood:

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2870285	0.84[ASN][1000 genomes]
rs2870286	0.88[ASN][1000 genomes]
rs4811464	0.86[ASN][1000 genomes]
rs6013794	0.89[ASN][1000 genomes]
rs6013795	0.87[ASN][1000 genomes]
rs6013796	0.89[ASN][1000 genomes]
rs6022740	0.93[ASN][1000 genomes]
rs6022742	0.89[ASN][1000 genomes]
rs6063994	0.89[ASN][1000 genomes]
rs6063995	0.89[ASN][1000 genomes]
rs6063996	0.87[ASN][1000 genomes]
rs6063997	0.84[ASN][1000 genomes]
rs6068659	0.96[ASN][1000 genomes]
rs6068661	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6068664	0.87[ASN][1000 genomes]
rs740778	0.85[ASN][1000 genomes]
rs740779	0.85[EUR][1000 genomes];0.95[ASN][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	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
2	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52380000-52391000	Weak transcription	Pancreas	Pancrea
2	chr20:52380800-52389000	Weak transcription	HSMMtube	muscle
3	chr20:52380800-52389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:52380800-52390000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:52381000-52388800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
7	chr20:52381200-52389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:52381200-52390000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr20:52381200-52390000	Weak transcription	Fetal Kidney	kidney
10	chr20:52381400-52390000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:52381400-52390000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:52384400-52389400	Weak transcription	Placenta	Placenta
13	chr20:52384400-52390000	Weak transcription	Stomach Mucosa	stomach
14	chr20:52384400-52394800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:52384800-52389800	Weak transcription	Liver	Liver
16	chr20:52385000-52389200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:52385400-52389400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:52385400-52392400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr20:52385800-52389800	Weak transcription	Osteobl	bone
20	chr20:52385800-52390000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr20:52385800-52390000	Enhancers	HepG2	liver
22	chr20:52386000-52388400	Weak transcription	Fetal Stomach	stomach
23	chr20:52386000-52389000	Weak transcription	HSMM	muscle
24	chr20:52386000-52389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:52386000-52389800	Weak transcription	Small Intestine	intestine
26	chr20:52386000-52390000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:52386000-52390000	Weak transcription	Fetal Intestine Small	intestine
28	chr20:52386000-52390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr20:52386000-52390200	Enhancers	A549	lung
30	chr20:52386200-52389000	Weak transcription	NHLF	lung
31	chr20:52386200-52389600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr20:52386200-52390000	Weak transcription	Fetal Lung	lung
33	chr20:52387800-52388800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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