Variant report

Variant	rs922376
Chromosome Location	chr20:52703603-52703604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:46672085..46674380-chr20:52701602..52704252,2	MCF-7	breast:
2	chr20:52703368..52704204-chr20:52811305..52812430,3	MCF-7	breast:
3	chr20:52703014..52703715-chr20:52712947..52713871,2	MCF-7	breast:
4	chr20:52703317..52704188-chr20:52765410..52766248,3	MCF-7	breast:
5	chr20:41010402..41013631-chr20:52701428..52704425,3	MCF-7	breast:
6	chr20:52703386..52704263-chr20:52743446..52744308,2	MCF-7	breast:
7	chr17:62229187..62231839-chr20:52701894..52704628,2	MCF-7	breast:
8	chr20:46475461..46477684-chr20:52701066..52703629,2	MCF-7	breast:
9	chr20:52703278..52704196-chr20:52740076..52740823,2	MCF-7	breast:
10	chr20:52701722..52703762-chr20:55824314..55825993,2	MCF-7	breast:
11	chr20:52701739..52704382-chr20:55838854..55841545,2	MCF-7	breast:
12	chr20:52703368..52704204-chr20:52811305..52812188,2	MCF-7	breast:
13	chr20:46412955..46417498-chr20:52699874..52705785,9	MCF-7	breast:
14	chr17:56707745..56710309-chr20:52697502..52703858,9	MCF-7	breast:
15	chr20:52703317..52704240-chr20:52765410..52766285,3	MCF-7	breast:
16	chr17:59939183..59941685-chr20:52702690..52704309,2	MCF-7	breast:
17	chr17:60003995..60006206-chr20:52702251..52704828,2	MCF-7	breast:
18	chr20:46412091..46416534-chr20:52700009..52706788,8	MCF-7	breast:
19	chr17:56734710..56738015-chr20:52703039..52706122,4	MCF-7	breast:
20	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs290412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4809951	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6022955	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127084	0.82[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs928492	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928493	0.95[CEU][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52699200-52707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr20:52700800-52703800	Enhancers	Stomach Mucosa	stomach
3	chr20:52701000-52706600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr20:52701800-52703800	Enhancers	Adipose Nuclei	Adipose
5	chr20:52702000-52703800	Enhancers	A549	lung
6	chr20:52702200-52707600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:52702600-52704400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr20:52702800-52703800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:52702800-52704200	Flanking Active TSS	HSMMtube	muscle
10	chr20:52702800-52704400	Enhancers	Fetal Muscle Leg	muscle
11	chr20:52703000-52703800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:52703000-52703800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:52703000-52703800	Flanking Active TSS	Osteobl	bone
14	chr20:52703000-52704000	Flanking Active TSS	HSMM	muscle
15	chr20:52703000-52704200	Enhancers	Fetal Muscle Trunk	muscle
16	chr20:52703200-52703800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:52703200-52703800	Active TSS	NHDF-Ad	bronchial
18	chr20:52703400-52703800	Enhancers	Colon Smooth Muscle	Colon
19	chr20:52703400-52704000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr20:52703600-52703800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr20:52703600-52703800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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