Variant report

Variant	rs6013790
Chromosome Location	chr20:52384363-52384364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52384341..52385045-chr20:52486093..52486635,2	MCF-7	breast:
2	chr17:59936911..59939827-chr20:52384180..52387033,2	MCF-7	breast:
3	chr17:58735795..58738279-chr20:52382898..52385760,2	MCF-7	breast:
4	chr20:52382904..52385794-chr20:52390290..52392254,2	K562	blood:
5	chr20:49347775..49350354-chr20:52382476..52384594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4399775	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
2	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52380000-52391000	Weak transcription	Pancreas	Pancrea
2	chr20:52380800-52384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:52380800-52389000	Weak transcription	HSMMtube	muscle
4	chr20:52380800-52389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:52380800-52390000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:52381000-52385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:52381000-52385000	Weak transcription	Small Intestine	intestine
8	chr20:52381000-52388800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
10	chr20:52381200-52385000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr20:52381200-52385000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:52381200-52385200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr20:52381200-52385200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr20:52381200-52385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:52381200-52385600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:52381200-52385600	Weak transcription	HSMM	muscle
17	chr20:52381200-52385600	Weak transcription	Osteobl	bone
18	chr20:52381200-52389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:52381200-52390000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr20:52381200-52390000	Weak transcription	Fetal Kidney	kidney
21	chr20:52381400-52390000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:52381400-52390000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:52382600-52385200	Enhancers	HepG2	liver
24	chr20:52383600-52384400	Active TSS	Liver	Liver
25	chr20:52383600-52384800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:52383600-52385400	Enhancers	A549	lung
27	chr20:52383600-52385800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:52383600-52387800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:52383800-52384400	Enhancers	Placenta	Placenta
30	chr20:52383800-52384400	Enhancers	Stomach Mucosa	stomach
31	chr20:52383800-52384400	Enhancers	Dnd41	blood
32	chr20:52383800-52384600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr20:52383800-52384600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr20:52383800-52384800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr20:52383800-52384800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:52383800-52385000	Enhancers	Primary B cells from peripheral blood	blood
37	chr20:52383800-52385200	Enhancers	GM12878-XiMat	blood
38	chr20:52383800-52385400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr20:52383800-52385400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr20:52383800-52385800	Enhancers	K562	blood
41	chr20:52383800-52386000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr20:52383800-52386000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:52383800-52386000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr20:52383800-52386200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:52383800-52386400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr20:52384000-52384400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr20:52384000-52384400	Enhancers	Duodenum Mucosa	Duodenum
48	chr20:52384000-52384400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr20:52384000-52385200	Weak transcription	Fetal Stomach	stomach
50	chr20:52384000-52386000	Enhancers	Fetal Intestine Small	intestine

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