Variant report

Variant	rs12101599
Chromosome Location	chr15:49375741-49375742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49169547..49171299-chr15:49375686..49377203,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COPS2-2	chr15:49375368-49376470	ucscGeneNc_uc002aam_1

Variant related genes	Relation type
ENSG00000255302	Chromatin interaction
ENSG00000185634	Chromatin interaction
ENSG00000235883	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10519208	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070681	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11632520	0.91[ASN][1000 genomes]
rs11632976	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637601	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858114	0.84[ASW][hapmap]
rs12101442	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12438175	0.82[EUR][1000 genomes]
rs12438357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440534	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12898709	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917024	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16962243	0.83[JPT][hapmap]
rs1904317	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap]
rs2086256	0.84[ASW][hapmap]
rs2127242	0.84[ASW][hapmap]
rs2243899	0.81[ASN][1000 genomes]
rs2246995	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs2413930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28505357	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28575845	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28790333	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098614	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.84[YRI][hapmap]
rs3098620	0.84[ASW][hapmap]
rs3105861	0.84[YRI][hapmap]
rs3105865	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.84[YRI][hapmap]
rs4468544	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4775803	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs485182	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs520949	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap]
rs568994	0.83[ASN][1000 genomes]
rs586758	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.84[YRI][hapmap]
rs641077	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.83[YRI][hapmap]
rs7497114	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8032650	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap]
rs9920070	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9944174	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12101599	DTWD1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49369200-49377800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:49372200-49381000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:49374200-49376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:49374600-49376200	Enhancers	Fetal Stomach	stomach
5	chr15:49374600-49376400	Enhancers	Fetal Lung	lung
6	chr15:49374600-49376600	Enhancers	NHLF	lung
7	chr15:49374800-49375800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:49375000-49376400	Enhancers	Osteobl	bone
9	chr15:49375000-49376800	Enhancers	Placenta	Placenta
10	chr15:49375200-49376200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:49375200-49376200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr15:49375200-49376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:49375400-49375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:49375400-49376200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:49375400-49376200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:49375400-49376400	Enhancers	NH-A	brain
17	chr15:49375400-49376400	Flanking Active TSS	NHDF-Ad	bronchial
18	chr15:49375600-49376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:49375600-49376400	Enhancers	Brain Cingulate Gyrus	brain
20	chr15:49375600-49376400	Enhancers	Brain Hippocampus Middle	brain

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