Variant report

Variant	rs4811466
Chromosome Location	chr20:52409008-52409009
allele	A/C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52407436..52409301-chr20:55840358..55843330,3	MCF-7	breast:
2	chr20:46291671..46294009-chr20:52407783..52409717,2	MCF-7	breast:
3	chr20:52407736..52410525-chr7:108165406..108166924,2	MCF-7	breast:
4	chr20:52406521..52409558-chr20:52424093..52427549,3	K562	blood:
5	chr20:52391167..52393135-chr20:52407671..52409754,2	K562	blood:
6	chr17:40556379..40559378-chr20:52408311..52410419,2	MCF-7	breast:
7	chr17:56735309..56737970-chr20:52407662..52409207,2	MCF-7	breast:
8	chr20:52404657..52409301-chr20:55839674..55843108,6	MCF-7	breast:
9	chr17:7736365..7738998-chr20:52407279..52409185,2	MCF-7	breast:
10	chr20:52407579..52410186-chr5:90512301..90513847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11086439	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11086440	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13045415	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4399775	0.86[CHB][hapmap]
rs4811465	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6068667	0.83[ASN][1000 genomes]
rs6123313	0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6126949	0.80[ASN][1000 genomes]
rs6126951	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6126953	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv586221	chr20:52392390-52418987	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv965888	chr20:52394959-52410541	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
7	nsv1064299	chr20:52395560-52420612	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
8	nsv1063442	chr20:52400519-52428220	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52402200-52409400	Weak transcription	Esophagus	oesophagus
2	chr20:52403800-52409400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr20:52403800-52409600	Weak transcription	Pancreas	Pancrea
4	chr20:52404200-52414400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52404200-52415600	Weak transcription	Fetal Intestine Large	intestine
6	chr20:52406400-52410800	Weak transcription	HSMMtube	muscle
7	chr20:52406600-52410600	Weak transcription	HepG2	liver
8	chr20:52406600-52417200	Weak transcription	K562	blood
9	chr20:52406800-52413600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr20:52407000-52411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:52407400-52409800	Enhancers	Fetal Stomach	stomach
12	chr20:52407600-52409400	Weak transcription	Placenta	Placenta
13	chr20:52407600-52411200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:52407800-52409400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:52407800-52411000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:52407800-52411000	Weak transcription	HSMM	muscle
17	chr20:52407800-52411200	Weak transcription	NHDF-Ad	bronchial
18	chr20:52407800-52411600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:52408000-52409200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:52408000-52409200	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:52408000-52409200	Weak transcription	NHEK	skin
22	chr20:52408000-52409600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:52408000-52409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:52408000-52409600	Weak transcription	HMEC	breast
25	chr20:52408000-52411000	Weak transcription	Osteobl	bone
26	chr20:52408000-52411200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:52408000-52411200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr20:52408000-52411200	Weak transcription	NH-A	brain
29	chr20:52408000-52411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr20:52408000-52413600	Weak transcription	A549	lung
31	chr20:52408200-52409400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:52408200-52410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:52408200-52411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:52408600-52409200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr20:52408600-52409800	Enhancers	HUVEC	blood vessel
36	chr20:52408800-52411800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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