Variant report

Variant	rs2694399
Chromosome Location	chr12:105957674-105957675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105955031-105962713	NONHSAT030458

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10861456	0.84[EUR][1000 genomes]
rs10861457	0.84[EUR][1000 genomes]
rs10861461	0.86[ASN][1000 genomes]
rs11112595	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112596	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11829257	0.93[AFR][1000 genomes]
rs1317555	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1526844	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1526846	0.83[ASN][1000 genomes]
rs1806811	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997174	0.84[EUR][1000 genomes]
rs2049571	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2049572	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2374514	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2374515	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2694388	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2694390	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694394	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694395	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694398	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694400	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2694401	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694404	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711732	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2711734	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711735	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711736	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711737	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711739	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2711741	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2888859	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4468444	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298586	0.90[AFR][1000 genomes]
rs7955835	0.93[AFR][1000 genomes]
rs876929	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs885131	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs941105	0.92[EUR][1000 genomes];0.94[ASN][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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105955000-105958000	Enhancers	Fetal Muscle Leg	muscle
3	chr12:105955400-105958200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105956400-105958000	Weak transcription	HUVEC	blood vessel
5	chr12:105956400-105967400	Weak transcription	Left Ventricle	heart
6	chr12:105956600-105979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:105956800-105957800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:105957000-105958400	Enhancers	Hela-S3	cervix
9	chr12:105957200-105958200	Enhancers	Fetal Heart	heart
10	chr12:105957200-105958200	Enhancers	A549	lung
11	chr12:105957200-105959200	Weak transcription	HSMMtube	muscle
12	chr12:105957200-105960800	Weak transcription	NHEK	skin
13	chr12:105957400-105957800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:105957400-105960600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:105957400-105967800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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