Variant report

Variant	rs2334058
Chromosome Location	chr7:3324235-3324236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10250444	0.82[JPT][hapmap]
rs10276933	0.83[JPT][hapmap]
rs10951155	0.82[JPT][hapmap]
rs1112428	0.83[JPT][hapmap]
rs11766873	0.84[EUR][1000 genomes]
rs11770645	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11983024	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs12056172	0.90[JPT][hapmap]
rs12234397	0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12673513	0.90[JPT][hapmap]
rs12700775	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700776	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700777	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700778	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700779	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700780	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12700789	0.83[JPT][hapmap]
rs17133208	0.92[ASN][1000 genomes]
rs17133257	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17133297	0.86[JPT][hapmap]
rs17133334	0.80[JPT][hapmap]
rs17133347	0.90[JPT][hapmap]
rs34368704	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34469526	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35888267	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36094267	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4131987	0.82[JPT][hapmap]
rs4316064	0.82[JPT][hapmap]
rs4348387	0.88[EUR][1000 genomes]
rs4607498	0.82[JPT][hapmap]
rs4719894	0.82[JPT][hapmap]
rs4722663	0.82[JPT][hapmap]
rs62437660	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62437661	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62437662	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62437663	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62437664	0.91[EUR][1000 genomes]
rs62440294	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62440295	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62441387	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651070	0.83[JPT][hapmap]
rs6966619	0.82[JPT][hapmap]
rs72576953	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72576955	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72576957	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7785994	0.82[JPT][hapmap]
rs7802250	0.83[JPT][hapmap]
rs7803004	0.82[JPT][hapmap]
rs7811286	0.82[JPT][hapmap]
rs885011	0.81[CHB][hapmap]
rs9969270	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464264	chr7:3194156-3349625	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv605880	chr7:3194156-3349625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv887322	chr7:3264728-3332630	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv887323	chr7:3271998-3332630	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3321600-3325200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:3322400-3325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3323400-3325000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:3323400-3325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:3323400-3325400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:3323600-3325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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