Variant report

Variant	rs1348805
Chromosome Location	chr2:63895673-63895674
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	chr2:63886236..63889221-chr2:63894013..63896444,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs112194	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1348803	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1348806	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1374308	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446563	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166385	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs171901	0.87[EUR][1000 genomes]
rs171902	0.87[EUR][1000 genomes]
rs185499	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs187801	0.80[EUR][1000 genomes]
rs196125	0.82[AMR][1000 genomes]
rs2121353	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2592386	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2592387	0.83[AMR][1000 genomes]
rs2592388	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2604614	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2604617	0.87[EUR][1000 genomes]
rs262475	0.83[AMR][1000 genomes]
rs262476	0.83[AMR][1000 genomes]
rs262480	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs262481	0.81[EUR][1000 genomes]
rs262482	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs262483	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs262484	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs262485	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs262487	0.81[EUR][1000 genomes]
rs262488	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs262501	0.82[AMR][1000 genomes]
rs262503	0.82[AMR][1000 genomes]
rs262504	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs262506	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs262507	0.82[AMR][1000 genomes]
rs262508	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262509	0.87[EUR][1000 genomes]
rs262510	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262511	0.82[AMR][1000 genomes]
rs262512	0.82[AMR][1000 genomes]
rs262513	0.82[AMR][1000 genomes]
rs262514	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262515	0.85[EUR][1000 genomes]
rs262516	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262517	0.82[AMR][1000 genomes]
rs262518	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262519	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262520	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262521	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262523	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262524	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262525	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262526	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262527	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262528	0.87[EUR][1000 genomes]
rs262529	0.87[EUR][1000 genomes]
rs262530	0.87[EUR][1000 genomes]
rs262533	0.87[EUR][1000 genomes]
rs262536	0.87[EUR][1000 genomes]
rs262538	0.87[EUR][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
rs1348805	MDH1	cis	Adipose Subcutaneous	GTEx
rs1348805	WDPCP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:23 , 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	chr2:63891800-63903400	Weak transcription	Aorta	Aorta
3	chr2:63892600-63896200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:63892800-63895800	Enhancers	NHEK	skin
5	chr2:63893000-63896400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:63893000-63896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:63893000-63897800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:63893200-63896400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:63893200-63898600	Enhancers	Adipose Nuclei	Adipose
10	chr2:63893400-63896200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:63893400-63896200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:63893400-63896400	Enhancers	Liver	Liver
13	chr2:63893600-63896400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:63893600-63900800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:63893800-63895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:63894400-63896000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:63894600-63896200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:63894600-63896400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:63895000-63896000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:63895400-63896000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:63895400-63900600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:63895600-63895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:63895600-63896000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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