Variant report

Variant	rs57463238
Chromosome Location	chr12:50163074-50163075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50146790..50149576-chr12:50162181..50164757,2	K562	blood:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10160960	0.82[ASN][1000 genomes]
rs1049986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875964	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875968	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169069	0.80[EUR][1000 genomes]
rs11169073	0.82[EUR][1000 genomes]
rs11169076	0.83[EUR][1000 genomes]
rs11169081	0.82[EUR][1000 genomes]
rs11169082	0.82[EUR][1000 genomes]
rs11169092	0.89[EUR][1000 genomes]
rs11169097	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169101	0.81[AMR][1000 genomes]
rs11169104	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169106	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169109	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169111	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169112	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169113	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169118	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169125	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169127	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11169133	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169140	0.85[AMR][1000 genomes]
rs11833411	0.89[EUR][1000 genomes]
rs11834380	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12296586	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12299505	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12299513	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12301824	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12303310	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12304796	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12305460	0.84[AMR][1000 genomes]
rs12308256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12309940	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12310510	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311839	0.80[EUR][1000 genomes]
rs12314795	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315224	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315791	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12316284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12317646	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320556	0.82[EUR][1000 genomes]
rs12321169	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13066	0.82[EUR][1000 genomes]
rs1470906	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1574326	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123808	0.83[EUR][1000 genomes]
rs17123981	0.81[AMR][1000 genomes]
rs2005195	0.82[EUR][1000 genomes]
rs2336058	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2878532	0.81[AMR][1000 genomes]
rs3887728	0.82[EUR][1000 genomes]
rs4045193	0.89[EUR][1000 genomes]
rs4133070	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4563	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4584654	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57191490	0.80[ASN][1000 genomes]
rs57342147	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58446833	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59233136	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59849800	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59940006	0.83[EUR][1000 genomes]
rs60121503	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60402517	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61616163	0.81[AMR][1000 genomes]
rs61620972	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61710637	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580719	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131915	0.82[EUR][1000 genomes]
rs7136052	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137976	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296281	0.80[EUR][1000 genomes]
rs7299002	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7309607	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7312658	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7313738	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305008	0.82[EUR][1000 genomes]
rs73305012	0.80[EUR][1000 genomes]
rs73305085	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73305098	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73306808	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74089182	0.80[ASN][1000 genomes]
rs7688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7952734	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954994	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955586	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7956089	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7956181	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7962645	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7973389	0.82[EUR][1000 genomes]
rs7977389	0.80[EUR][1000 genomes]
rs7979262	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7980979	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876889	0.82[EUR][1000 genomes]
rs897056	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9804749	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9804971	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50148200-50170000	Weak transcription	Right Atrium	heart
2	chr12:50158200-50170200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:50158400-50163400	Weak transcription	Spleen	Spleen
4	chr12:50158400-50170000	Weak transcription	Esophagus	oesophagus
5	chr12:50158400-50170200	Weak transcription	A549	lung
6	chr12:50158400-50170200	Weak transcription	K562	blood
7	chr12:50158800-50163800	Weak transcription	GM12878-XiMat	blood
8	chr12:50158800-50170200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:50158800-50170400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:50159000-50163800	Weak transcription	Pancreas	Pancrea
12	chr12:50159000-50164200	Weak transcription	Dnd41	blood
13	chr12:50159000-50167600	Weak transcription	HSMMtube	muscle
14	chr12:50159000-50170000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50159000-50170200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:50159000-50170400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:50159000-50170400	Weak transcription	NH-A	brain
18	chr12:50159000-50170400	Weak transcription	Osteobl	bone
19	chr12:50159000-50171800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:50159200-50164200	Weak transcription	HSMM	muscle
21	chr12:50159200-50164400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:50159200-50170000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:50159200-50170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:50159200-50170200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:50159200-50170200	Weak transcription	NHEK	skin
26	chr12:50159200-50170400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:50159200-50170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:50159200-50170400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:50159200-50170600	Weak transcription	HMEC	breast
30	chr12:50159200-50172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:50159200-50177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:50159400-50163600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:50159400-50171800	Weak transcription	Liver	Liver
34	chr12:50159400-50178600	Weak transcription	Right Ventricle	heart
35	chr12:50159600-50163200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:50159800-50164400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:50159800-50170200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:50159800-50172000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:50160000-50163600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:50160000-50163800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:50160000-50164400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:50160000-50167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:50160000-50170600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:50160000-50172000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:50160200-50163200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:50160200-50164200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:50160200-50169600	Weak transcription	Fetal Thymus	thymus
48	chr12:50160200-50169800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:50160400-50170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:50160600-50170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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