Variant report

Variant	rs7300016
Chromosome Location	chr12:45776748-45776749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12321278	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578337	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578601	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095855	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2081589	0.92[AFR][1000 genomes]
rs34756223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4583038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151528	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57121130	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57985291	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58674935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60452259	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60688397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132433	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302251	0.92[AFR][1000 genomes]
rs7302256	0.92[AFR][1000 genomes]
rs7302635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304126	0.92[AFR][1000 genomes]
rs7312150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74081808	0.82[AMR][1000 genomes]
rs9788104	1.00[EUR][1000 genomes];1.00[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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
7	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
11	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:45763400-45796000	Weak transcription	Osteobl	bone
14	chr12:45764200-45778600	Weak transcription	Aorta	Aorta
15	chr12:45764200-45779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:45764400-45776800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:45764400-45777000	Weak transcription	Fetal Kidney	kidney
18	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:45764600-45776800	Weak transcription	NH-A	brain
22	chr12:45764600-45778200	Weak transcription	GM12878-XiMat	blood
23	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:45764800-45778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:45770800-45780600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:45771200-45780400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:45771200-45781400	Strong transcription	Primary B cells from cord blood	blood
29	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
31	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:45771200-45786600	Strong transcription	Dnd41	blood
33	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
34	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:45771400-45778200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:45771400-45781000	Strong transcription	Liver	Liver
38	chr12:45771400-45785400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:45771600-45780000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:45771600-45780600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:45771800-45782200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:45772000-45780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:45772000-45780800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:45772000-45781600	Strong transcription	Fetal Intestine Large	intestine
46	chr12:45772200-45782400	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:45772200-45782600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:45772600-45776800	Weak transcription	HepG2	liver
49	chr12:45772600-45777600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:45772600-45777800	Weak transcription	Pancreas	Pancrea

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