Variant report

Variant	rs11695071
Chromosome Location	chr2:114062216-114062217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10864913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123176	0.90[AMR][1000 genomes]
rs11123177	0.92[AMR][1000 genomes]
rs11123179	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11685107	0.88[AMR][1000 genomes]
rs11685421	0.88[AMR][1000 genomes]
rs12475140	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476056	0.90[AMR][1000 genomes]
rs12999288	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2002510	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36000169	0.83[AMR][1000 genomes]
rs6716573	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7425070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11695071	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs11695071	AC016683.6	cis	lung	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114055000-114062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114058200-114067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114060600-114062400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:114060800-114062400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:114060800-114065400	Weak transcription	Gastric	stomach
6	chr2:114061000-114062400	Weak transcription	HSMMtube	muscle
7	chr2:114061200-114062800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:114061200-114064200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:114061400-114062600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:114061800-114063800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:114062000-114063200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:114062000-114063400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:114062200-114062400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:114062200-114063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:114062200-114064800	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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