Variant report

Variant	rs1437195
Chromosome Location	chr16:72326375-72326376
allele	A/G
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:19)

rs_ID	r²[population]
rs10153187	0.88[ASN][1000 genomes]
rs10492819	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970769	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs17608557	0.83[JPT][hapmap]
rs17669912	0.87[ASN][1000 genomes]
rs2059248	0.82[EUR][1000 genomes]
rs60731174	0.85[ASN][1000 genomes]
rs62053965	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62053966	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62053968	0.87[ASN][1000 genomes]
rs7197154	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7200367	0.84[ASN][1000 genomes]
rs8047074	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8056067	0.87[ASN][1000 genomes]
rs8058832	0.87[ASN][1000 genomes]
rs8063172	0.87[ASN][1000 genomes]
rs806732	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs806733	0.88[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs9940976	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1437195	CALB2	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72302600-72332000	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72315600-72353600	Weak transcription	Dnd41	blood
3	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:72317400-72331800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72318600-72329200	Weak transcription	HepG2	liver
6	chr16:72324200-72326400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:72324800-72326400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr16:72324800-72326400	Flanking Active TSS	A549	lung
9	chr16:72324800-72326400	Flanking Active TSS	HUVEC	blood vessel
10	chr16:72325400-72326400	Enhancers	NHDF-Ad	bronchial
11	chr16:72325400-72327200	Enhancers	HMEC	breast
12	chr16:72325400-72327200	Enhancers	NHEK	skin
13	chr16:72325400-72327400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:72325400-72342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:72325600-72326400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:72325600-72327200	Enhancers	Hela-S3	cervix
17	chr16:72325600-72327200	Enhancers	HSMM	muscle
18	chr16:72325600-72327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:72325800-72326400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:72326200-72326400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:72326200-72326400	Enhancers	NH-A	brain
22	chr16:72326200-72326600	Enhancers	Osteobl	bone
23	chr16:72326200-72327000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:72326200-72327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:72326200-72334800	Weak transcription	Rectal Mucosa Donor 31	rectum

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