Variant report

Variant	rs56091726
Chromosome Location	chr12:39268506-39268507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39268478..39271402-chr12:39288578..39290820,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1095573	0.88[AFR][1000 genomes]
rs11537523	0.95[AFR][1000 genomes]
rs1523119	0.80[AFR][1000 genomes]
rs1533918	0.88[AFR][1000 genomes]
rs1615648	0.82[AFR][1000 genomes]
rs1719833	0.84[AFR][1000 genomes]
rs1996879	0.88[AFR][1000 genomes]
rs55845087	1.00[EUR][1000 genomes]
rs56310820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60104847	1.00[EUR][1000 genomes]
rs60539249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73262407	1.00[EUR][1000 genomes]
rs73262445	1.00[EUR][1000 genomes]
rs73269146	1.00[EUR][1000 genomes]
rs73269173	1.00[EUR][1000 genomes]
rs73271127	1.00[EUR][1000 genomes]
rs73273181	1.00[EUR][1000 genomes]
rs73274726	1.00[EUR][1000 genomes]
rs73274734	1.00[EUR][1000 genomes]
rs73274737	1.00[EUR][1000 genomes]
rs73274747	1.00[EUR][1000 genomes]
rs73274761	1.00[EUR][1000 genomes]
rs73274764	1.00[EUR][1000 genomes]
rs73274767	1.00[EUR][1000 genomes]
rs74086007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087366	1.00[EUR][1000 genomes]
rs826861	0.84[AFR][1000 genomes]
rs826862	0.84[AFR][1000 genomes]
rs826867	0.84[AFR][1000 genomes]
rs862331	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39238800-39271600	Weak transcription	NHEK	skin
4	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
5	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
7	chr12:39252600-39272000	Weak transcription	A549	lung
8	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39253200-39272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:39256800-39269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:39257000-39271400	Weak transcription	HMEC	breast
12	chr12:39261800-39279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:39263800-39277600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:39264000-39272000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:39265000-39268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:39265600-39271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:39265600-39272000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:39265600-39272200	Weak transcription	GM12878-XiMat	blood
19	chr12:39266000-39271600	Weak transcription	Liver	Liver
20	chr12:39266400-39283200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:39266600-39269800	Weak transcription	HUVEC	blood vessel
22	chr12:39266800-39268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:39267400-39275600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:39267600-39269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:39268400-39269000	Enhancers	Pancreatic Islets	Pancreatic Islet

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