Variant report

Variant	rs10783820
Chromosome Location	chr12:57671303-57671304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57671194..57673496-chr12:57680187..57682848,2	K562	blood:
2	chr12:57671280..57675750-chr12:57846169..57850162,4	K562	blood:

Variant related genes	Relation type
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10747777	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747778	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783818	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783819	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783823	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876976	0.81[AMR][1000 genomes]
rs10876978	0.81[AMR][1000 genomes]
rs11172156	0.91[EUR][1000 genomes]
rs11172160	0.90[EUR][1000 genomes]
rs11172165	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172170	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11609986	0.90[EUR][1000 genomes]
rs12296766	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310220	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812140	0.81[EUR][1000 genomes]
rs35032945	0.82[EUR][1000 genomes]
rs3923885	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4075325	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760192	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760193	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760228	0.83[AMR][1000 genomes]
rs4760236	0.82[AMR][1000 genomes]
rs4760308	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760348	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4760356	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760357	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs512223	0.83[AMR][1000 genomes]
rs6581131	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581134	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581135	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581136	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581139	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7133366	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7133939	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135142	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298418	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7307059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309659	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313824	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314266	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7358684	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7398058	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7486863	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975649	0.84[ASN][1000 genomes]
rs7977908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
2	chr12:57652000-57673600	Weak transcription	Hela-S3	cervix
3	chr12:57653400-57671400	Weak transcription	Small Intestine	intestine
4	chr12:57654800-57705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:57655800-57674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:57656200-57673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:57656600-57682800	Weak transcription	Fetal Brain Male	brain
8	chr12:57658200-57673600	Strong transcription	Fetal Thymus	thymus
9	chr12:57660600-57674200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:57662800-57674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:57662800-57706000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:57663000-57674000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:57663400-57671800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:57663800-57671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:57663800-57671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:57663800-57671800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:57663800-57673400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:57663800-57673400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:57663800-57673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:57663800-57675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:57664000-57671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:57664000-57671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:57664000-57672000	Weak transcription	Colonic Mucosa	Colon
24	chr12:57664000-57673400	Weak transcription	NH-A	brain
25	chr12:57664000-57674000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:57665200-57673400	Weak transcription	NHEK	skin
27	chr12:57665400-57674000	Weak transcription	Pancreas	Pancrea
28	chr12:57665600-57673400	Weak transcription	Fetal Lung	lung
29	chr12:57666200-57672000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:57667000-57671400	Weak transcription	Brain Angular Gyrus	brain
31	chr12:57667000-57671600	Weak transcription	Left Ventricle	heart
32	chr12:57667000-57671600	Weak transcription	K562	blood
33	chr12:57667000-57672200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:57667000-57674000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:57667000-57674000	Weak transcription	Right Ventricle	heart
36	chr12:57667200-57672000	Weak transcription	HMEC	breast
37	chr12:57667200-57672600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:57667200-57673400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:57667400-57671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:57667400-57671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:57667400-57671600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:57667400-57672200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:57667600-57671400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:57667600-57671400	Weak transcription	Spleen	Spleen
45	chr12:57667600-57673800	Weak transcription	HUVEC	blood vessel
46	chr12:57667600-57674000	Weak transcription	Aorta	Aorta
47	chr12:57667600-57674000	Weak transcription	Esophagus	oesophagus
48	chr12:57667600-57675600	Weak transcription	Gastric	stomach
49	chr12:57667600-57685600	Weak transcription	Fetal Heart	heart
50	chr12:57667600-57687200	Weak transcription	Psoas Muscle	Psoas

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