Variant report

Variant	rs1182101
Chromosome Location	chr1:86811266-86811267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10493790	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11161810	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11161812	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161814	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161816	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161817	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1158833	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1182098	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182099	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119411	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12123660	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125965	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130284	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12145243	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12403033	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406320	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1407722	0.80[AMR][1000 genomes]
rs1413431	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1413432	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17409213	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17409304	0.81[ASN][1000 genomes]
rs17449526	0.81[ASN][1000 genomes]
rs1931360	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1931361	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1931362	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs272488	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs272489	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272490	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs272493	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272495	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272496	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272497	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272499	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272500	0.85[EUR][1000 genomes]
rs272501	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272505	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272506	0.83[ASN][1000 genomes]
rs272509	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272512	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272514	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs272515	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272518	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35489949	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737673	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3765983	0.81[ASN][1000 genomes]
rs421105	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423991	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026277	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57210989	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61124915	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs969396	0.81[AMR][1000 genomes]
rs977919	0.90[EUR][1000 genomes];0.93[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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1182101	CLCA2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86805400-86817400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:86810400-86819200	Weak transcription	NHLF	lung
5	chr1:86810600-86816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:86810800-86811400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:86810800-86813200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:86810800-86815800	Enhancers	HUVEC	blood vessel
10	chr1:86810800-86817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:86810800-86818600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:86810800-86819400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:86811000-86816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:86811000-86817400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:86811000-86817800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:86811200-86811600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:86811200-86815400	Weak transcription	Aorta	Aorta
18	chr1:86811200-86818800	Weak transcription	Fetal Thymus	thymus
19	chr1:86811200-86819000	Weak transcription	Fetal Lung	lung

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