Variant report

Variant	rs73053929
Chromosome Location	chr1:185288581-185288582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:185288124-185288630	K562	blood:	n/a	n/a
2	STAT3	chr1:185288483-185288687	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr1:185288203-185288719	IMR90	lung:	n/a	n/a
4	CEBPB	chr1:185288211-185288683	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:185288279-185288692	A549	lung:	n/a	n/a
6	FOS	chr1:185288454-185288590	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185285397..185289190-chr1:185299692..185306897,6	K562	blood:
2	chr1:185287917..185289698-chr1:185307396..185309858,2	K562	blood:
3	chr1:185286851..185288619-chr6:26215919..26218798,2	MCF-7	breast:
4	chr1:185287782..185290762-chr1:185502287..185504150,2	K562	blood:

No data

Variant related genes	Relation type
IVNS1ABP	TF binding region
ENSG00000187990	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000261024	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802738	1.00[AMR][1000 genomes]
rs11807870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811583	1.00[AMR][1000 genomes]
rs57927210	0.81[AFR][1000 genomes]
rs59227355	0.94[AFR][1000 genomes]
rs6672580	0.92[AFR][1000 genomes]
rs6674689	1.00[AMR][1000 genomes]
rs6680028	1.00[AMR][1000 genomes]
rs7555243	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185286600-185288600	Flanking Active TSS	K562	blood
2	chr1:185287200-185288600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:185287200-185288600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:185287400-185288600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:185287400-185288600	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:185287400-185288600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:185287400-185290800	Weak transcription	Fetal Stomach	stomach
8	chr1:185287400-185291400	Weak transcription	Fetal Brain Female	brain
9	chr1:185287600-185288600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185287600-185288600	Enhancers	Dnd41	blood
11	chr1:185287600-185288600	Enhancers	Hela-S3	cervix
12	chr1:185287600-185288600	Enhancers	NHEK	skin
13	chr1:185287600-185289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:185287600-185290000	Weak transcription	Fetal Thymus	thymus
15	chr1:185287600-185298200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:185287800-185298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:185288000-185288600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:185288200-185288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:185288200-185288600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:185288200-185288600	Enhancers	HMEC	breast
21	chr1:185288200-185288600	Enhancers	NHDF-Ad	bronchial
22	chr1:185288200-185289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:185288200-185290000	Weak transcription	Fetal Intestine Small	intestine
24	chr1:185288200-185290600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:185288200-185290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:185288200-185291800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:185288200-185292800	Weak transcription	HepG2	liver
28	chr1:185288400-185288600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:185288400-185288600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:185288400-185288600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:185288400-185288600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:185288400-185288600	Enhancers	Pancreas	Pancrea
33	chr1:185288400-185290000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:185288400-185294400	Weak transcription	Fetal Heart	heart

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