Variant report

Variant	rs4811465
Chromosome Location	chr20:52407781-52407782
allele	C/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	chr20:52407436..52409301-chr20:55840358..55843330,3	MCF-7	breast:
2	chr20:52407434..52408281-chr22:24236232..24237182,2	MCF-7	breast:
3	chr17:59477203..59479502-chr20:52406823..52408821,2	MCF-7	breast:
4	chr20:52407736..52410525-chr7:108165406..108166924,2	MCF-7	breast:
5	chr20:52194989..52195626-chr20:52407310..52408251,3	MCF-7	breast:
6	chr20:52406521..52409558-chr20:52424093..52427549,3	K562	blood:
7	chr20:52406598..52408941-chr20:52412585..52415507,2	K562	blood:
8	chr20:52391167..52393135-chr20:52407671..52409754,2	K562	blood:
9	chr17:57920866..57922366-chr20:52406722..52408932,2	MCF-7	breast:
10	chr17:56735309..56737970-chr20:52407662..52409207,2	MCF-7	breast:
11	chr20:52404657..52409301-chr20:55839674..55843108,6	MCF-7	breast:
12	chr20:52406932..52408053-chr20:52556127..52557209,4	MCF-7	breast:
13	chr17:59486878..59488888-chr20:52405963..52408731,2	MCF-7	breast:
14	chr20:45986023..45988935-chr20:52406198..52408499,2	MCF-7	breast:
15	chr17:7736365..7738998-chr20:52407279..52409185,2	MCF-7	breast:
16	chr20:52406042..52408935-chr20:55845826..55848274,2	MCF-7	breast:
17	chr20:52406627..52408117-chr20:52531940..52532933,4	MCF-7	breast:
18	chr20:52407146..52408072-chr20:52486248..52487589,4	MCF-7	breast:
19	chr20:52407579..52410186-chr5:90512301..90513847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000240972	Chromatin interaction
ENSG00000236352	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11086440	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2870286	0.81[EUR][1000 genomes]
rs4811466	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6022739	0.85[CEU][hapmap]
rs6022747	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6022750	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6063996	0.95[CEU][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap];0.89[EUR][1000 genomes]
rs6063997	0.91[CEU][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6068664	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6068667	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6123313	0.83[JPT][hapmap]
rs6126951	0.86[ASN][1000 genomes]
rs6126953	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr20:52405800-52407800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:52405800-52407800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:52405800-52407800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:52405800-52408000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr20:52405800-52408000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:52405800-52408000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:52405800-52408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:52405800-52408000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr20:52405800-52408000	Enhancers	HMEC	breast
15	chr20:52406000-52407800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:52406000-52407800	Enhancers	NHDF-Ad	bronchial
17	chr20:52406000-52408000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:52406000-52408000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:52406000-52408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:52406000-52408000	Enhancers	NH-A	brain
21	chr20:52406000-52408200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:52406000-52408200	Enhancers	HUVEC	blood vessel
23	chr20:52406000-52408200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr20:52406200-52407800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:52406200-52408000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr20:52406200-52408000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:52406200-52408000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr20:52406200-52408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:52406200-52408200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:52406200-52408200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:52406200-52408400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr20:52406400-52407800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:52406400-52410800	Weak transcription	HSMMtube	muscle
34	chr20:52406600-52408600	Weak transcription	Fetal Lung	lung
35	chr20:52406600-52410600	Weak transcription	HepG2	liver
36	chr20:52406600-52417200	Weak transcription	K562	blood
37	chr20:52406800-52408000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr20:52406800-52413600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:52407000-52411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:52407200-52407800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr20:52407200-52407800	Flanking Active TSS	A549	lung
42	chr20:52407200-52408000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr20:52407200-52408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:52407400-52407800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:52407400-52407800	Enhancers	Colon Smooth Muscle	Colon
46	chr20:52407400-52407800	Enhancers	Duodenum Mucosa	Duodenum
47	chr20:52407400-52407800	Enhancers	Fetal Brain Female	brain
48	chr20:52407400-52407800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr20:52407400-52407800	Enhancers	Stomach Mucosa	stomach
50	chr20:52407400-52407800	Flanking Active TSS	NHEK	skin

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