Variant report

Variant	rs74087374
Chromosome Location	chr12:39121736-39121737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55758865	1.00[AFR][1000 genomes]
rs58795622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59020369	1.00[AFR][1000 genomes]
rs59239625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593939	0.86[AFR][1000 genomes]
rs60048904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60810093	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61421015	0.84[AFR][1000 genomes]
rs7138956	0.91[AFR][1000 genomes]
rs74085780	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74087326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39092600-39153600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39113800-39123800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:39114200-39133600	Weak transcription	A549	lung
5	chr12:39114400-39124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:39115800-39122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:39115800-39123400	Weak transcription	Spleen	Spleen
8	chr12:39115800-39124000	Weak transcription	Pancreas	Pancrea
9	chr12:39115800-39164400	Weak transcription	Lung	lung
10	chr12:39116000-39123800	Weak transcription	Ovary	ovary
11	chr12:39116000-39126400	Weak transcription	Left Ventricle	heart
12	chr12:39116000-39154800	Weak transcription	Aorta	Aorta
13	chr12:39116400-39124400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:39117000-39122600	Weak transcription	GM12878-XiMat	blood
15	chr12:39117000-39143200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:39117600-39123600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:39117600-39126800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:39117600-39133600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:39118400-39143400	Weak transcription	Liver	Liver
20	chr12:39118400-39165600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:39118600-39133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:39118600-39136000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:39119400-39122600	Weak transcription	Monocytes-CD14+_RO01746	blood

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