Variant report

Variant	rs62323451
Chromosome Location	chr4:124428716-124428717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124427654..124430498-chr4:124440041..124442274,2	MCF-7	breast:
2	chr4:124426846..124429708-chr4:124483364..124486101,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17007027	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17007046	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58127542	0.87[EUR][1000 genomes]
rs60621989	0.87[EUR][1000 genomes]
rs62323452	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62323453	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62323456	0.87[EUR][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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124427400-124429200	Enhancers	Fetal Thymus	thymus
2	chr4:124427400-124430400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:124427400-124430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:124427400-124430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:124427600-124428800	Enhancers	K562	blood
6	chr4:124427600-124429000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:124427600-124429200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:124427600-124431000	Weak transcription	Placenta	Placenta
9	chr4:124427800-124428800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr4:124427800-124428800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:124427800-124428800	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:124427800-124428800	Enhancers	Fetal Lung	lung
13	chr4:124427800-124429000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:124427800-124429000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:124427800-124429000	Enhancers	HepG2	liver
16	chr4:124427800-124429200	Enhancers	Fetal Intestine Large	intestine
17	chr4:124427800-124429200	Enhancers	Fetal Intestine Small	intestine
18	chr4:124427800-124429200	Enhancers	Fetal Muscle Leg	muscle
19	chr4:124427800-124429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:124427800-124430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:124427800-124430400	Weak transcription	Brain Germinal Matrix	brain
22	chr4:124427800-124431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:124427800-124432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:124428000-124428800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:124428000-124428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:124428000-124429000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:124428000-124429000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:124428000-124429000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:124428000-124429000	Enhancers	Adipose Nuclei	Adipose
30	chr4:124428000-124430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:124428000-124471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:124428200-124428800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:124428200-124429000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:124428200-124432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:124428400-124429000	Enhancers	Fetal Kidney	kidney
36	chr4:124428600-124428800	Enhancers	Brain Substantia Nigra	brain
37	chr4:124428600-124428800	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links