Variant report

Variant	rs58022723
Chromosome Location	chr12:51525421-51525422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51475387..51477468-chr12:51523738..51527043,4	K562	blood:
2	chr12:51453861..51455456-chr12:51525275..51527997,2	K562	blood:
3	chr12:51525135..51527179-chr12:51638986..51640542,2	K562	blood:
4	chr12:51441392..51443461-chr12:51523950..51525818,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11169719	0.94[AFR][1000 genomes]
rs11169724	0.88[AFR][1000 genomes]
rs12369066	0.88[AFR][1000 genomes]
rs12372440	0.88[AFR][1000 genomes]
rs17125367	0.88[AFR][1000 genomes]
rs17125370	0.88[AFR][1000 genomes]
rs17125418	0.94[AFR][1000 genomes]
rs4768873	0.88[AFR][1000 genomes]
rs4768973	0.88[AFR][1000 genomes]
rs57768942	0.85[AFR][1000 genomes]
rs58309379	0.81[AFR][1000 genomes]
rs6580794	0.88[AFR][1000 genomes]
rs7137990	0.92[AFR][1000 genomes]
rs7303962	0.98[AFR][1000 genomes]
rs73305715	0.94[AFR][1000 genomes]
rs73305721	0.94[AFR][1000 genomes]
rs73305742	0.88[AFR][1000 genomes]
rs73305754	0.88[AFR][1000 genomes]
rs73305773	0.85[AFR][1000 genomes]
rs7964852	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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
4	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
6	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:51510200-51554400	Weak transcription	K562	blood
14	chr12:51511400-51531400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
19	chr12:51513200-51531600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:51513400-51527800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:51514400-51532200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
23	chr12:51517200-51554600	Weak transcription	HepG2	liver
24	chr12:51519000-51526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:51519000-51526600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:51519000-51529400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:51519000-51529400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:51519000-51530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:51519000-51530400	Weak transcription	Ovary	ovary
30	chr12:51519000-51531600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:51519000-51533800	Weak transcription	Gastric	stomach
32	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
36	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
37	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
38	chr12:51519200-51525600	Weak transcription	GM12878-XiMat	blood
39	chr12:51519200-51526400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:51519200-51526600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:51519200-51526600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:51519200-51527000	Weak transcription	A549	lung
43	chr12:51519200-51527400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:51519200-51529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:51519200-51529400	Weak transcription	Placenta	Placenta
46	chr12:51519200-51529400	Weak transcription	Fetal Thymus	thymus
47	chr12:51519200-51529600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:51519200-51530000	Weak transcription	Hela-S3	cervix
49	chr12:51519200-51530200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:51519200-51530400	Weak transcription	Aorta	Aorta

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