Variant report

Variant	rs839607
Chromosome Location	chr1:120218998-120218999
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120190003..120192578-chr1:120218346..120219888,2	K562	blood:
2	chr1:120207377..120209340-chr1:120217218..120219975,2	MCF-7	breast:
3	chr1:120218290..120220840-chr1:120221608..120223374,2	MCF-7	breast:
4	chr1:120216865..120219033-chr1:120220435..120223044,2	K562	blood:
5	chr1:120217105..120219498-chr1:120262347..120264026,2	MCF-7	breast:
6	chr1:120186660..120189165-chr1:120218209..120219908,2	K562	blood:
7	chr1:120216390..120222237-chr1:120252306..120257638,5	MCF-7	breast:
8	chr1:120199380..120201212-chr1:120217819..120219932,2	MCF-7	breast:
9	chr1:120216874..120219563-chr1:120253751..120255810,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1163251	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs487081	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs487884	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs496195	0.82[EUR][1000 genomes]
rs496198	0.82[EUR][1000 genomes]
rs511059	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs514491	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs539708	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs541503	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs594400	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs597308	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs598685	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs606312	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs612430	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs627707	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs629735	0.81[EUR][1000 genomes]
rs639216	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs639761	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs640195	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs662243	0.82[EUR][1000 genomes]
rs677277	0.80[EUR][1000 genomes]
rs839600	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs839605	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs839608	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs866321	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr1:120215200-120219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:120215200-120219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:120217200-120219000	Enhancers	Hela-S3	cervix
4	chr1:120217200-120221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:120217600-120222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:120217800-120219000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:120217800-120219000	Flanking Active TSS	Liver	Liver
8	chr1:120218000-120219000	Flanking Active TSS	Osteobl	bone
9	chr1:120218200-120220600	Weak transcription	Pancreas	Pancrea
10	chr1:120218400-120219000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:120218400-120219000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:120218400-120219000	Enhancers	Placenta	Placenta
13	chr1:120218400-120222000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:120218600-120219000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:120218600-120219000	Enhancers	Fetal Lung	lung
16	chr1:120218600-120219000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:120218600-120219000	Flanking Active TSS	HepG2	liver
18	chr1:120218600-120221400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:120218600-120221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:120218600-120221600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:120218800-120219000	Enhancers	HUVEC	blood vessel
22	chr1:120218800-120219600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:120218800-120220000	Weak transcription	GM12878-XiMat	blood
24	chr1:120218800-120220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:120218800-120221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:120218800-120221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:120218800-120221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:120218800-120221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:120218800-120221600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:120218800-120221600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:120218800-120221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:120218800-120221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:120218800-120221800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:120218800-120222200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:120218800-120222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:120218800-120225000	Weak transcription	NHEK	skin

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