Variant report

Variant	rs2592387
Chromosome Location	chr2:63894834-63894835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63886236..63889221-chr2:63894013..63896444,2	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10168545	0.83[AMR][1000 genomes]
rs10469944	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10469945	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1082363	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865338	0.84[AMR][1000 genomes]
rs10865339	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11125977	0.82[AMR][1000 genomes]
rs11125978	0.82[AMR][1000 genomes]
rs112194	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11898615	0.83[AMR][1000 genomes]
rs12105140	0.82[AMR][1000 genomes]
rs1255	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12990914	0.84[AMR][1000 genomes]
rs1348803	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348805	0.83[AMR][1000 genomes]
rs1348806	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374308	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446563	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446564	0.84[AMR][1000 genomes]
rs1446565	0.84[AMR][1000 genomes]
rs1446569	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166384	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166385	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171901	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171902	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174485	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs185499	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867849	0.81[AMR][1000 genomes]
rs187801	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1900303	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190519	0.83[AMR][1000 genomes]
rs196123	0.90[ASN][1000 genomes]
rs196124	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs196125	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2028883	0.82[AMR][1000 genomes]
rs2121351	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2121353	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166497	0.84[AMR][1000 genomes]
rs2305157	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2592386	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592388	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604613	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2604614	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604615	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604617	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262470	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262472	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262473	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262475	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262476	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262477	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262478	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262479	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs262480	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262481	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262482	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262483	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262484	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262485	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262486	0.82[AMR][1000 genomes]
rs262487	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262488	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262490	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262491	0.90[ASN][1000 genomes]
rs262492	0.90[ASN][1000 genomes]
rs262493	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262494	0.90[ASN][1000 genomes]
rs262495	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262501	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262502	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262503	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262504	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262505	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262506	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262507	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262508	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262509	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262510	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262511	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262512	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262513	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262514	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262515	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262516	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262517	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262518	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262519	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262520	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262521	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262523	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262524	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262525	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262526	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262527	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262528	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262529	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262530	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262531	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262532	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs262533	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262534	1.00[ASN][1000 genomes]
rs262535	1.00[ASN][1000 genomes]
rs262536	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262537	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262538	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262539	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671065	0.84[AMR][1000 genomes]
rs4671067	0.84[AMR][1000 genomes]
rs4671068	0.86[AMR][1000 genomes]
rs4671069	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671512	0.81[AMR][1000 genomes]
rs4671514	0.82[AMR][1000 genomes]
rs4671516	0.84[AMR][1000 genomes]
rs4671517	0.81[AMR][1000 genomes]
rs4671519	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546007	0.81[AMR][1000 genomes]
rs6546009	0.84[AMR][1000 genomes]
rs6546016	0.81[AMR][1000 genomes]
rs6546017	0.84[AMR][1000 genomes]
rs6546018	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546019	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6708804	0.86[AMR][1000 genomes]
rs6724160	0.82[AMR][1000 genomes]
rs6732791	0.84[AMR][1000 genomes]
rs6734648	0.84[AMR][1000 genomes]
rs6736029	0.84[AMR][1000 genomes]
rs68183503	0.84[AMR][1000 genomes]
rs7570031	0.81[AMR][1000 genomes]
rs7571017	0.84[AMR][1000 genomes]
rs7571325	0.84[AMR][1000 genomes]
rs7576316	0.83[AMR][1000 genomes]
rs7577952	0.84[AMR][1000 genomes]
rs7584404	0.84[AMR][1000 genomes]
rs7606045	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607257	0.82[AMR][1000 genomes]
rs7608513	0.81[AMR][1000 genomes]
rs959195	0.82[AMR][1000 genomes]
rs964880	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964903	0.84[AMR][1000 genomes]
rs9789351	0.84[AMR][1000 genomes]
rs989527	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2592387	MDH1	cis	Adipose Subcutaneous	GTEx
rs2592387	WDPCP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63883600-63900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:63891400-63895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:63891800-63903400	Weak transcription	Aorta	Aorta
4	chr2:63892200-63895200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:63892400-63895600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:63892600-63895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:63892600-63896200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:63892800-63895800	Enhancers	NHEK	skin
9	chr2:63893000-63895600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:63893000-63896400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:63893000-63896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:63893000-63897800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:63893200-63895400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:63893200-63896400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:63893200-63898600	Enhancers	Adipose Nuclei	Adipose
16	chr2:63893400-63895400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:63893400-63895400	Enhancers	HMEC	breast
18	chr2:63893400-63895600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:63893400-63895600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:63893400-63896200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:63893400-63896200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:63893400-63896400	Enhancers	Liver	Liver
23	chr2:63893600-63896400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:63893600-63900800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:63893800-63895000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:63893800-63895000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:63893800-63895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:63893800-63895600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:63893800-63895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:63894000-63895000	Weak transcription	Esophagus	oesophagus
31	chr2:63894000-63895400	Enhancers	NHDF-Ad	bronchial
32	chr2:63894400-63895000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:63894400-63895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:63894400-63896000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:63894600-63896200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:63894600-63896400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:63894800-63895400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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