Variant report

Variant	rs3757483
Chromosome Location	chr7:6748934-6748935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10215807	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10951991	0.82[EUR][1000 genomes]
rs11770065	0.82[ASN][1000 genomes]
rs11974158	0.87[ASN][1000 genomes]
rs11979878	0.93[ASN][1000 genomes]
rs11980762	0.87[ASN][1000 genomes]
rs12531541	0.92[ASN][1000 genomes]
rs12535850	0.81[ASN][1000 genomes]
rs12536632	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12537448	0.82[EUR][1000 genomes]
rs12673800	0.82[EUR][1000 genomes]
rs2881352	0.95[ASN][1000 genomes]
rs3757481	0.93[ASN][1000 genomes]
rs3757482	1.00[ASN][1000 genomes]
rs56257118	0.82[EUR][1000 genomes]
rs60514449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62439674	0.82[EUR][1000 genomes]
rs62439695	0.82[EUR][1000 genomes]
rs62439697	0.82[EUR][1000 genomes]
rs62439702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62439703	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62439704	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62439719	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62439720	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62439721	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62439728	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62439731	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6463576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6463578	0.90[ASN][1000 genomes]
rs6943677	0.87[ASN][1000 genomes]
rs6944332	0.87[ASN][1000 genomes]
rs6948691	0.82[EUR][1000 genomes]
rs6948965	0.85[ASN][1000 genomes]
rs6952131	0.82[ASN][1000 genomes]
rs6953825	0.84[ASN][1000 genomes]
rs6954012	0.83[ASN][1000 genomes]
rs6958648	0.87[ASN][1000 genomes]
rs6964079	0.82[EUR][1000 genomes]
rs6967414	1.00[ASN][1000 genomes]
rs6968879	0.87[ASN][1000 genomes]
rs6969066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971324	0.87[ASN][1000 genomes]
rs6971621	0.82[EUR][1000 genomes]
rs6971979	0.87[ASN][1000 genomes]
rs6972017	0.93[ASN][1000 genomes]
rs6974325	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6975002	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6979127	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6979158	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7782227	1.00[ASN][1000 genomes]
rs7786706	0.97[ASN][1000 genomes]
rs7798471	0.92[ASN][1000 genomes]
rs7799134	0.87[ASN][1000 genomes]
rs7804259	0.82[ASN][1000 genomes]
rs9639027	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
8	nsv8039	chr7:6748111-6764886	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6747000-6768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6747200-6749600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:6747400-6750600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:6747400-6752600	Weak transcription	HSMMtube	muscle
5	chr7:6747400-6757400	Weak transcription	Fetal Brain Female	brain
6	chr7:6748000-6749800	Active TSS	Liver	Liver
7	chr7:6748200-6749600	Enhancers	HepG2	liver

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