Variant report

Variant	rs4811475
Chromosome Location	chr20:52452191-52452192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707356..56710177-chr20:52450614..52453612,3	MCF-7	breast:
2	chr17:59939333..59940887-chr20:52450988..52453979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction
ENSG00000212195	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11086442	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11698816	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6013809	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6022793	0.88[ASN][1000 genomes]
rs6064010	0.84[ASN][1000 genomes]
rs6064011	0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs6068684	0.85[EUR][1000 genomes]
rs6123320	0.95[ASN][1000 genomes]
rs6126982	0.80[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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52443400-52456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52444000-52453200	Weak transcription	Small Intestine	intestine
4	chr20:52444800-52456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:52446600-52455400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:52447000-52456000	Weak transcription	Placenta	Placenta
7	chr20:52447200-52453400	Weak transcription	Fetal Intestine Small	intestine
8	chr20:52447200-52453400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:52447400-52452200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:52447400-52453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr20:52447400-52456200	Weak transcription	HUVEC	blood vessel
12	chr20:52447400-52459400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr20:52447600-52453200	Weak transcription	Colonic Mucosa	Colon
14	chr20:52449200-52456000	Weak transcription	Lung	lung
15	chr20:52449200-52456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:52449600-52457800	Enhancers	Primary B cells from cord blood	blood
17	chr20:52449800-52452600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr20:52449800-52461000	Enhancers	Primary B cells from peripheral blood	blood
19	chr20:52450000-52453800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:52450000-52462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:52450200-52452400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:52450200-52452600	Enhancers	Primary hematopoietic stem cells	blood
23	chr20:52450200-52452600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr20:52450200-52452600	Enhancers	Fetal Thymus	thymus
25	chr20:52450200-52453200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr20:52450200-52454000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr20:52450400-52457800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr20:52450400-52465200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr20:52450600-52452400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr20:52450600-52452600	Enhancers	Primary T cells from cord blood	blood
31	chr20:52450600-52465200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr20:52450800-52453600	Weak transcription	HepG2	liver
33	chr20:52450800-52456000	Weak transcription	Fetal Muscle Leg	muscle
34	chr20:52451000-52452600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr20:52451000-52453600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr20:52451000-52453600	Weak transcription	A549	lung
37	chr20:52451000-52456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:52451000-52456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:52451000-52456200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:52451000-52457000	Weak transcription	NHDF-Ad	bronchial
41	chr20:52451000-52462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:52451200-52452200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr20:52451200-52452400	Enhancers	GM12878-XiMat	blood
44	chr20:52451200-52454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr20:52451200-52457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:52451200-52457200	Weak transcription	NHEK	skin
47	chr20:52451200-52464000	Weak transcription	HSMM	muscle
48	chr20:52451400-52452400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr20:52451400-52452400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr20:52451600-52452600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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