Variant report

Variant	rs11905615
Chromosome Location	chr20:52445243-52445244
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52367432..52369907-chr20:52444310..52447312,3	K562	blood:
2	chr17:79479762..79482602-chr20:52444194..52446135,2	MCF-7	breast:
3	chr20:52444785..52445389-chr20:52486199..52486870,2	MCF-7	breast:
4	chr17:56735298..56737736-chr20:52444962..52446651,2	MCF-7	breast:
5	chr20:52278103..52278773-chr20:52444653..52445447,2	MCF-7	breast:
6	chr17:57917983..57919742-chr20:52443624..52445975,2	MCF-7	breast:
7	chr19:12904144..12906645-chr20:52443752..52446655,2	MCF-7	breast:
8	chr20:52194902..52196178-chr20:52444038..52445704,6	MCF-7	breast:
9	chr1:116005229..116007431-chr20:52444362..52446929,2	MCF-7	breast:
10	chr20:52442966..52445864-chr20:55839139..55841212,2	MCF-7	breast:
11	chr17:57917840..57922874-chr20:52444092..52449259,5	MCF-7	breast:
12	chr20:52444427..52449219-chr20:55839929..55843430,6	MCF-7	breast:
13	chr20:52444977..52447125-chr9:74381841..74383738,2	MCF-7	breast:
14	chr17:56708142..56710971-chr20:52444323..52447306,3	MCF-7	breast:
15	chr20:52445220..52447050-chr21:41755084..41757495,2	MCF-7	breast:
16	chr17:56735072..56736721-chr20:52444117..52446150,2	MCF-7	breast:
17	chr20:52402683..52403207-chr20:52444983..52445959,2	MCF-7	breast:
18	chr17:58602315..58604454-chr20:52443406..52445937,2	MCF-7	breast:
19	chr20:52369629..52371487-chr20:52444483..52447130,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000229848	Chromatin interaction
ENSG00000135048	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000229947	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16998448	0.88[LWK][hapmap]
rs56380011	0.84[AFR][1000 genomes]
rs6022788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73912406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73912496	0.83[AFR][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52440800-52445400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:52441200-52446000	Enhancers	HepG2	liver
4	chr20:52442600-52445400	Enhancers	Primary B cells from peripheral blood	blood
5	chr20:52442800-52445400	Enhancers	Fetal Thymus	thymus
6	chr20:52443200-52445400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:52443200-52445400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr20:52443200-52445400	Enhancers	Fetal Intestine Small	intestine
9	chr20:52443200-52445600	Flanking Active TSS	A549	lung
10	chr20:52443400-52445400	Enhancers	Primary T cells from cord blood	blood
11	chr20:52443400-52445400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:52443400-52445800	Enhancers	Fetal Intestine Large	intestine
13	chr20:52443400-52456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:52443600-52445600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:52443600-52447000	Enhancers	Placenta	Placenta
16	chr20:52443600-52447200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:52443800-52445400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:52443800-52445400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr20:52443800-52445400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:52443800-52445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:52443800-52445400	Enhancers	Dnd41	blood
22	chr20:52443800-52445600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:52443800-52446800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr20:52443800-52449000	Weak transcription	Lung	lung
25	chr20:52444000-52445400	Enhancers	Fetal Brain Male	brain
26	chr20:52444000-52446000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:52444000-52453200	Weak transcription	Small Intestine	intestine
28	chr20:52444200-52445600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:52444200-52446200	Enhancers	Brain Germinal Matrix	brain
30	chr20:52444400-52445400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr20:52444400-52446000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:52444400-52446000	Flanking Active TSS	Fetal Kidney	kidney
33	chr20:52444400-52446000	Flanking Active TSS	HMEC	breast
34	chr20:52444400-52446600	Active TSS	NHDF-Ad	bronchial
35	chr20:52444400-52446800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:52444400-52446800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52444400-52446800	Active TSS	Stomach Smooth Muscle	stomach
38	chr20:52444400-52447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr20:52444400-52447000	Flanking Active TSS	Hela-S3	cervix
40	chr20:52444400-52447000	Flanking Active TSS	HUVEC	blood vessel
41	chr20:52444400-52447000	Flanking Active TSS	NHEK	skin
42	chr20:52444600-52445400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr20:52444600-52445400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr20:52444600-52445400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr20:52444600-52445600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:52444600-52445600	Enhancers	Liver	Liver
47	chr20:52444600-52446600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:52444600-52446600	Active TSS	Aorta	Aorta
49	chr20:52444600-52446800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr20:52444600-52447000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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