Variant report

Variant	rs17033498
Chromosome Location	chr4:104179961-104179962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:104117492..104119427-chr4:104178040..104180048,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022348	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516502	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097804	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11734165	0.84[ASN][1000 genomes]
rs11943325	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085978	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126471	0.95[ASN][1000 genomes]
rs2169511	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866642	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866646	0.94[EUR][1000 genomes]
rs28837409	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4456958	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4698887	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4698890	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699062	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533078	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533079	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6822379	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6849319	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6856593	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657390	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7672802	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7676772	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7678717	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679365	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs970156	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv821637	chr4:104134839-104246167	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3431044	chr4:104179397-104249650	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2757947	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759271	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17033498	BDH2	cis	Esophagus Muscularis	GTEx
rs17033498	BDH2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104177200-104180000	Active TSS	K562	blood
2	chr4:104178800-104180400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:104179000-104183000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:104179200-104180200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:104179400-104181000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:104179600-104180000	Enhancers	HepG2	liver
7	chr4:104179800-104180200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:104179800-104180600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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