Variant report

Variant	rs6533382
Chromosome Location	chr4:78923851-78923852
allele	A/C
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	TEAD4	chr4:78923451-78923882	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr4:78923383-78923941	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248128	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1010728	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10222901	0.91[MEX][hapmap];0.81[TSI][hapmap]
rs1039467	0.84[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs10428319	0.90[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10856991	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097965	0.90[CEU][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap]
rs11097980	0.84[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11721383	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11723221	0.82[JPT][hapmap]
rs11731374	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs11732039	0.84[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11733759	0.82[JPT][hapmap]
rs11734428	0.82[ASN][1000 genomes]
rs11737353	0.82[JPT][hapmap];0.81[TSI][hapmap]
rs11737861	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap]
rs11937191	0.98[ASN][1000 genomes]
rs12108312	0.90[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12507708	0.96[ASN][1000 genomes]
rs12650649	0.98[ASN][1000 genomes]
rs1502879	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1502880	0.93[ASN][1000 genomes]
rs1521419	0.82[JPT][hapmap]
rs1553386	0.84[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1554457	0.82[JPT][hapmap]
rs17002825	0.82[JPT][hapmap]
rs17002829	0.81[JPT][hapmap]
rs1847215	0.90[ASN][1000 genomes]
rs1847216	0.84[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1910304	0.98[ASN][1000 genomes]
rs2036458	1.00[ASN][1000 genomes]
rs2102190	0.87[ASN][1000 genomes]
rs2134459	0.87[ASN][1000 genomes]
rs2174078	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2174080	0.90[CEU][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2866688	0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs35896758	0.91[ASN][1000 genomes]
rs4304001	0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs4331798	0.80[ASN][1000 genomes]
rs4365752	0.82[JPT][hapmap]
rs4388114	0.90[CEU][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs4410552	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs4473672	0.80[ASN][1000 genomes]
rs4546268	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4561950	0.90[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4859515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859896	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859898	0.98[ASN][1000 genomes]
rs4859899	1.00[ASN][1000 genomes]
rs4859900	1.00[ASN][1000 genomes]
rs4859901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56138517	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57221952	0.80[ASN][1000 genomes]
rs57896992	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58054752	0.80[ASN][1000 genomes]
rs6533358	0.87[ASN][1000 genomes]
rs6533359	0.87[ASN][1000 genomes]
rs6533374	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6533376	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6817305	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs6821826	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6827822	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs6832015	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6835806	0.82[AFR][1000 genomes]
rs6850590	0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6851286	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6854989	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6857479	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs72869573	0.84[AMR][1000 genomes]
rs73827459	0.82[ASN][1000 genomes]
rs73827460	0.82[ASN][1000 genomes]
rs7439347	0.81[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7656319	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7657658	0.82[JPT][hapmap]
rs7659122	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7661064	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs7663359	0.90[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7671432	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671941	0.90[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs7673642	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7687170	0.90[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7687812	0.90[CEU][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs7698246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7699987	0.98[ASN][1000 genomes]
rs950263	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs950264	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9991424	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1004772	chr4:78906866-78976561	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6533382	G3BP2	cis	parietal	SCAN
rs6533382	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL
rs6533382	G3BP2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78923000-78924600	Enhancers	HSMMtube	muscle
2	chr4:78923200-78925000	Enhancers	HSMM	muscle
3	chr4:78923400-78924000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:78923400-78924000	Enhancers	NHEK	skin
5	chr4:78923800-78924400	Weak transcription	HepG2	liver

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