Variant report

Variant	rs2262194
Chromosome Location	chr12:123198921-123198922
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DENR-2	chr12:123198838-123199340	ENSG00000256249

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11059384	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1696352	0.82[ASN][1000 genomes]
rs17884481	0.82[ASN][1000 genomes]
rs1798192	0.82[ASN][1000 genomes]
rs1798219	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2244689	0.89[ASN][1000 genomes]
rs2256572	0.82[ASN][1000 genomes]
rs2256936	0.80[ASN][1000 genomes]
rs2454702	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454703	0.80[ASN][1000 genomes]
rs2454722	0.89[ASN][1000 genomes]
rs2550	0.80[ASN][1000 genomes]
rs2649991	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28710048	0.82[ASN][1000 genomes]
rs3104613	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3104614	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34699072	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35683065	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3922628	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4759361	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4759364	0.83[AMR][1000 genomes]
rs4759404	0.85[ASN][1000 genomes]
rs488635	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs491489	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs492699	0.88[ASN][1000 genomes]
rs507525	0.83[ASN][1000 genomes]
rs509548	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs525215	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs526276	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs537527	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs545234	0.86[ASN][1000 genomes]
rs562042	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs568853	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs580063	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582452	0.85[ASN][1000 genomes]
rs585465	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs589154	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs601339	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61955034	0.83[ASN][1000 genomes]
rs630408	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs632393	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs635400	0.89[ASN][1000 genomes]
rs643285	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs645491	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs648183	0.82[ASN][1000 genomes]
rs6489203	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs662889	0.86[ASN][1000 genomes]
rs680838	0.82[ASN][1000 genomes]
rs680934	0.82[ASN][1000 genomes]
rs681317	0.82[ASN][1000 genomes]
rs71456771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296217	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7956284	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7969523	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13329	chr12:123178106-123210671	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv973132	chr12:123184783-123201537	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv8582	chr12:123186451-123200127	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3504363	chr12:123186465-123200093	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv3504374	chr12:123186465-123200093	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv3493297	chr12:123187437-123200966	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv3493308	chr12:123187437-123200966	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123174000-123199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:123192600-123199800	Weak transcription	HepG2	liver
3	chr12:123195400-123202200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:123195600-123200000	Weak transcription	Placenta	Placenta
5	chr12:123196200-123200800	Weak transcription	GM12878-XiMat	blood
6	chr12:123198600-123199200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:123198800-123199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:123198800-123199000	Enhancers	Spleen	Spleen
9	chr12:123198800-123199200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:123198800-123199200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:123198800-123199200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:123198800-123199200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr12:123198800-123199400	Enhancers	HMEC	breast
14	chr12:123198800-123199400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:123198800-123200200	Active TSS	Primary hematopoietic stem cells	blood
16	chr12:123198800-123201400	Active TSS	Primary B cells from cord blood	blood
17	chr12:123198800-123201400	Enhancers	NHEK	skin

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