Variant report

Variant	rs6048950
Chromosome Location	chr20:23603252-23603253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1010117	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1011226	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1064039	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1158167	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12624424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625182	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625716	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12710327	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13037490	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13038305	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13038337	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13038990	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13039536	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13040663	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13041070	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13043266	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13043610	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555355	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17751897	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016161	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2067488	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2208289	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254635	0.81[ASN][1000 genomes]
rs2405392	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2405393	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424582	0.83[ASN][1000 genomes]
rs28703706	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3004139	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3004145	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3088162	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34374560	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34746357	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34792920	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34897231	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34911568	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35488434	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35573837	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35610040	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35782710	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35966482	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3761280	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3761281	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787498	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787499	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3810575	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3827141	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3827142	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827143	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4346460	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815222	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815223	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815224	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5030707	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55897275	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56077567	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56371840	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56388902	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57549987	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59059917	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036461	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036463	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036465	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6036469	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036470	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036471	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036474	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036476	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036478	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048920	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048922	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048923	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048924	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048925	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048926	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048928	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048929	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048933	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048936	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048937	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048939	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048941	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048945	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048946	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048952	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048956	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61035931	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106685	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6114201	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6114206	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114208	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114209	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6515375	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67567111	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67997662	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71334202	0.81[EUR][1000 genomes]
rs7265178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270413	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73318135	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs734801	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8114619	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115417	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8115423	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8116859	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8121147	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121283	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8121405	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs911119	0.89[EUR][1000 genomes];0.83[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6048950	CST3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23595200-23603400	Weak transcription	Brain Anterior Caudate	brain
2	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:23601600-23603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:23601800-23603400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr20:23601800-23603400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23601800-23603400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:23601800-23606000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:23601800-23606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:23602000-23603400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr20:23602000-23603600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr20:23602000-23603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr20:23602000-23609400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23602000-23610000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:23602000-23610200	Weak transcription	Lung	lung
15	chr20:23602000-23612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:23602000-23616800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr20:23602200-23603600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr20:23602400-23606600	Weak transcription	Gastric	stomach
19	chr20:23602800-23603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:23602800-23603400	Enhancers	NHDF-Ad	bronchial
21	chr20:23603000-23603400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:23603000-23603400	Enhancers	Brain Cingulate Gyrus	brain
23	chr20:23603000-23603400	Enhancers	Colon Smooth Muscle	Colon
24	chr20:23603000-23603400	Enhancers	Duodenum Mucosa	Duodenum
25	chr20:23603000-23603400	Enhancers	HepG2	liver
26	chr20:23603000-23603400	Enhancers	Osteobl	bone
27	chr20:23603000-23603600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:23603000-23603600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr20:23603000-23606400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:23603200-23603400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:23603200-23603400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:23603200-23603400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:23603200-23603400	Enhancers	Brain Substantia Nigra	brain
34	chr20:23603200-23603400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
35	chr20:23603200-23603400	Enhancers	Rectal Smooth Muscle	rectum
36	chr20:23603200-23603400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr20:23603200-23603400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr20:23603200-23603400	Enhancers	Stomach Mucosa	stomach
39	chr20:23603200-23603400	Flanking Active TSS	HMEC	breast
40	chr20:23603200-23603400	Enhancers	HSMMtube	muscle
41	chr20:23603200-23603400	Enhancers	HUVEC	blood vessel
42	chr20:23603200-23603400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr20:23603200-23603400	Enhancers	NH-A	brain
44	chr20:23603200-23603400	Enhancers	NHEK	skin
45	chr20:23603200-23603400	Enhancers	NHLF	lung
46	chr20:23603200-23603600	Enhancers	Primary B cells from cord blood	blood
47	chr20:23603200-23603800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:23603200-23603800	Active TSS	A549	lung
49	chr20:23603200-23603800	Enhancers	HSMM	muscle
50	chr20:23603200-23604000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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