Variant report

Variant	rs56398195
Chromosome Location	chr2:211287090-211287091
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1009906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1027902	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932331	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932332	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11884252	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11895784	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12465418	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1458281	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1458288	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17769570	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17770211	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17820639	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370952	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370954	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3856338	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3900166	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4102442	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55789407	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56063685	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7425115	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7602073	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7602360	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988726	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56398195	LANCL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211286200-211288800	Enhancers	Fetal Heart	heart
2	chr2:211286400-211287200	Enhancers	Brain Substantia Nigra	brain
3	chr2:211286400-211287200	Enhancers	HMEC	breast
4	chr2:211286400-211287400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:211286400-211287400	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:211286400-211287400	Enhancers	HSMM	muscle
7	chr2:211286400-211287400	Enhancers	HSMMtube	muscle
8	chr2:211286400-211287400	Enhancers	NH-A	brain
9	chr2:211286400-211287800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:211286600-211287200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:211286600-211287200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:211286600-211287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:211286600-211287200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:211286600-211287200	Enhancers	Placenta	Placenta
15	chr2:211286600-211287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:211286800-211287200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:211286800-211287200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:211286800-211287400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:211286800-211287400	Enhancers	Psoas Muscle	Psoas
20	chr2:211286800-211287600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:211287000-211287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:211287000-211287400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:211287000-211287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:211287000-211291200	Weak transcription	Ovary	ovary
25	chr2:211287000-211292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:211287000-211294200	Weak transcription	Brain Angular Gyrus	brain

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