Variant report

Variant	rs11723511
Chromosome Location	chr4:124543169-124543170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11730924	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11941633	0.88[AFR][1000 genomes]
rs11946918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12504496	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13124203	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553382	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2553383	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2589857	0.87[EUR][1000 genomes]
rs6817835	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71608146	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124537200-124545000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:124537200-124545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:124538000-124543200	Weak transcription	Fetal Brain Female	brain
4	chr4:124539200-124547600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:124541200-124543200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:124541200-124543200	Enhancers	Fetal Intestine Small	intestine
7	chr4:124541400-124543200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:124541600-124545000	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:124542000-124543200	Enhancers	HSMM	muscle
10	chr4:124542000-124543200	Enhancers	HUVEC	blood vessel
11	chr4:124542200-124543400	Enhancers	Right Atrium	heart
12	chr4:124542200-124543600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:124542400-124543200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:124542400-124543400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:124542600-124543200	Enhancers	Brain Germinal Matrix	brain
16	chr4:124542600-124544000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:124542800-124543200	Enhancers	Adipose Nuclei	Adipose
18	chr4:124542800-124544000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:124543000-124544000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:124543000-124544600	Weak transcription	Fetal Heart	heart
21	chr4:124543000-124545000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links