Variant report

Variant	rs55845087
Chromosome Location	chr12:39208741-39208742
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3803019	1.00[AMR][1000 genomes]
rs56091726	1.00[EUR][1000 genomes]
rs56310820	1.00[EUR][1000 genomes]
rs60539249	1.00[EUR][1000 genomes]
rs7136317	1.00[EUR][1000 genomes]
rs73269146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274761	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73274764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74086007	1.00[EUR][1000 genomes]
rs74087366	1.00[AMR][1000 genomes];1.00[EUR][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	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39201600-39208800	Weak transcription	Esophagus	oesophagus
2	chr12:39201800-39216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:39203200-39213400	Weak transcription	Pancreas	Pancrea
4	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
5	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
6	chr12:39203600-39216800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:39204000-39284800	Weak transcription	Lung	lung
8	chr12:39204200-39213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:39204200-39216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:39204400-39209400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:39205000-39217000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:39205600-39229400	Weak transcription	HMEC	breast
16	chr12:39206000-39216800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:39206600-39209600	Weak transcription	Ovary	ovary
19	chr12:39206600-39213600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:39206600-39217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:39206600-39220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
23	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:39206800-39213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:39206800-39214400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:39206800-39215600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:39206800-39217000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:39206800-39221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
30	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:39207000-39218400	Weak transcription	Liver	Liver
33	chr12:39207200-39210800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:39207200-39213600	Weak transcription	Monocytes-CD14+_RO01746	blood

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