Variant report

Variant	rs4377650
Chromosome Location	chr4:69917073-69917074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:69916984-69917331	HepG2	liver:	n/a	n/a
2	WRNIP1	chr4:69916931-69917983	GM12878	blood:	n/a	n/a
3	EBF1	chr4:69917048-69917665	GM12878	blood:	n/a	n/a
4	HEY1	chr4:69916598-69917768	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:69916769-69917133	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:69916770-69917187	IMR90	lung:	n/a	n/a
7	POLR2A	chr4:69916947-69917192	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:69916673-69918000	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:69916629-69918124	HepG2	liver:	n/a	n/a
10	TBP	chr4:69916809-69917623	GM12878	blood:	n/a	n/a
11	CHD1	chr4:69917048-69917423	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:69916816-69917551	HepG2	liver:	n/a	n/a
13	MXI1	chr4:69917019-69917119	GM12878	blood:	n/a	n/a
14	HEY1	chr4:69916744-69917388	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UGT2B7	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10012215	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10012240	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10012607	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021748	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10030220	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11249520	0.81[ASN][1000 genomes]
rs11725519	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12501837	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12509175	0.95[ASN][1000 genomes]
rs12646327	0.81[CHB][hapmap]
rs12648808	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12648830	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13102620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13108709	0.83[ASN][1000 genomes]
rs13116752	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13127081	0.97[ASN][1000 genomes]
rs13140844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13145304	0.83[ASN][1000 genomes]
rs13147569	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13147648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1902929	0.81[CHB][hapmap]
rs2292524	0.92[ASN][1000 genomes]
rs28775401	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28801471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3922514	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235106	0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4235108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4235111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4235112	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4235113	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4235114	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4299665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4299666	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4304032	0.81[ASN][1000 genomes]
rs4305590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4312824	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4351079	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4365792	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4400060	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4400061	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4410590	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4412058	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4413468	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4422474	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440295	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4446390	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4481286	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4495114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4516791	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4518318	0.96[CEU][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4583828	0.96[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4591680	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4600986	0.82[CHB][hapmap]
rs4607293	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611997	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4618380	0.87[ASN][1000 genomes]
rs4694159	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4694160	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694551	0.81[ASN][1000 genomes]
rs4694588	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694597	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694599	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694602	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694604	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694605	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694607	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694610	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694611	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694612	0.86[ASN][1000 genomes]
rs55778959	0.81[ASN][1000 genomes]
rs56879009	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57386454	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58496756	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60212682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60814050	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61612343	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422321	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6422322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6600865	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6600867	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6600868	0.88[EUR][1000 genomes]
rs6820734	0.81[CHB][hapmap]
rs6827511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6850053	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72851338	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72851348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72852416	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72852450	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7434389	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7435274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7436912	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7438033	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7438808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7439419	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7441365	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7441736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7442394	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7442486	0.90[CHB][hapmap]
rs7654272	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7657426	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7658748	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7660019	0.83[ASN][1000 genomes]
rs7660021	0.82[ASN][1000 genomes]
rs7662632	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666894	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7674573	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7674600	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7677996	0.83[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7679418	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7680156	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7687336	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7687692	0.83[ASN][1000 genomes]
rs7687725	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7692377	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7693166	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7698430	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9715099	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4377650	UGT2B7	cis	lung	GTEx
rs4377650	UGT2B7	cis	Skin Sun Exposed Lower leg	GTEx
rs4377650	Hs.479894	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69908000-69920200	Weak transcription	Pancreas	Pancrea
2	chr4:69913400-69920200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:69915800-69918200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:69916200-69918200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:69916200-69921200	Active TSS	HepG2	liver
6	chr4:69916800-69917200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:69916800-69917200	Enhancers	Liver	Liver
8	chr4:69916800-69917600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:69916800-69920400	Active TSS	Fetal Kidney	kidney
10	chr4:69917000-69917200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:69917000-69917200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:69917000-69917200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:69917000-69917400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:69917000-69917400	Enhancers	Fetal Muscle Leg	muscle
15	chr4:69917000-69917400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:69917000-69917600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:69917000-69917600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:69917000-69917600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:69917000-69917600	Enhancers	Esophagus	oesophagus
20	chr4:69917000-69917600	Enhancers	GM12878-XiMat	blood
21	chr4:69917000-69917800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:69917000-69918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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