Variant report

Variant	rs2043541
Chromosome Location	chr2:11657182-11657183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929751	0.90[ASN][1000 genomes]
rs12468776	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12477087	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13428964	0.82[EUR][1000 genomes]
rs4669742	0.86[EUR][1000 genomes]
rs67894448	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287731	0.88[CEU][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
2	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
3	chr2:11651200-11658200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:11653400-11657400	Enhancers	Ovary	ovary
5	chr2:11654000-11664000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:11654800-11664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:11655000-11657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11655400-11657600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11655400-11664000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:11655800-11657800	Genic enhancers	HepG2	liver
11	chr2:11656000-11660400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:11656200-11657200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:11656200-11661400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11656200-11671000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:11656400-11657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:11656600-11657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:11656600-11658400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:11656800-11657200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:11656800-11657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:11657000-11657200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11657000-11657400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:11657000-11657400	Genic enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links