Variant report

Variant	rs4730507
Chromosome Location	chr7:111690188-111690189
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10242194	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10242337	0.98[ASN][1000 genomes]
rs10247033	0.99[ASN][1000 genomes]
rs10258545	1.00[ASN][1000 genomes]
rs10261950	1.00[ASN][1000 genomes]
rs10279995	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11973245	0.81[ASN][1000 genomes]
rs12671036	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673764	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673819	0.93[ASN][1000 genomes]
rs2894634	0.95[JPT][hapmap]
rs4730506	0.96[ASN][1000 genomes]
rs4730508	0.92[ASN][1000 genomes]
rs55864601	0.92[ASN][1000 genomes]
rs58373588	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466396	0.92[ASN][1000 genomes]
rs6958532	0.84[ASN][1000 genomes]
rs6962255	0.84[ASN][1000 genomes]
rs769084	0.83[EUR][1000 genomes]
rs7778864	0.92[ASN][1000 genomes]
rs7791324	0.94[JPT][hapmap]
rs7793681	0.99[ASN][1000 genomes]
rs7797442	0.99[ASN][1000 genomes]
rs7802310	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802845	0.94[JPT][hapmap]
rs7808571	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1844097	chr7:111686153-111723488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111677000-111693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111678800-111701200	Weak transcription	Right Atrium	heart
3	chr7:111681400-111693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:111683000-111698400	Weak transcription	HUVEC	blood vessel
5	chr7:111683200-111690400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:111688200-111705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:111689000-111691200	Enhancers	Brain Anterior Caudate	brain
8	chr7:111689000-111691400	Enhancers	Brain Substantia Nigra	brain
9	chr7:111689000-111691600	Enhancers	Brain Hippocampus Middle	brain
10	chr7:111689600-111690200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:111689600-111690400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:111689600-111690800	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:111689600-111691200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:111689600-111691400	Enhancers	Liver	Liver
15	chr7:111689600-111691400	Enhancers	Brain Angular Gyrus	brain
16	chr7:111689600-111691400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:111689800-111690800	Enhancers	Colon Smooth Muscle	Colon
18	chr7:111689800-111691000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:111689800-111691000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:111689800-111691000	Enhancers	Fetal Heart	heart
21	chr7:111689800-111691000	Enhancers	HepG2	liver
22	chr7:111689800-111691200	Enhancers	Fetal Lung	lung
23	chr7:111689800-111691600	Enhancers	A549	lung
24	chr7:111690000-111690400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:111690000-111690800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:111690000-111691000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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