Variant report

Variant	rs4730508
Chromosome Location	chr7:111705181-111705182
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10242194	0.89[ASN][1000 genomes]
rs10242337	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10247033	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10258545	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10261950	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10262170	0.82[ASN][1000 genomes]
rs10279995	0.90[ASN][1000 genomes]
rs11971933	0.89[EUR][1000 genomes]
rs11973245	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12666013	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12671036	0.87[ASN][1000 genomes]
rs12673764	0.85[ASN][1000 genomes]
rs12673819	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2894634	0.89[JPT][hapmap]
rs4730506	0.88[ASN][1000 genomes]
rs4730507	0.92[ASN][1000 genomes]
rs4730509	0.86[EUR][1000 genomes]
rs55864601	0.98[ASN][1000 genomes]
rs58373588	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6466396	0.83[ASN][1000 genomes]
rs6958405	0.89[EUR][1000 genomes]
rs6958532	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6962255	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72603556	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72603557	0.87[EUR][1000 genomes]
rs7778864	0.96[ASN][1000 genomes]
rs7791324	0.89[JPT][hapmap]
rs7793681	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7796169	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7797442	0.90[ASN][1000 genomes]
rs7802310	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7802845	0.89[JPT][hapmap]
rs7808571	0.89[JPT][hapmap]
rs7809158	0.94[EUR][1000 genomes]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111688200-111705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:111694000-111712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:111694000-111714600	Weak transcription	Aorta	Aorta
4	chr7:111694200-111706200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:111694200-111712600	Weak transcription	Pancreas	Pancrea
6	chr7:111696800-111709000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:111701000-111705200	Weak transcription	A549	lung
8	chr7:111701600-111705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:111701600-111705200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:111701600-111705200	Weak transcription	Right Atrium	heart
11	chr7:111701600-111706200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:111701600-111706200	Weak transcription	Right Ventricle	heart
13	chr7:111701600-111706800	Weak transcription	Lung	lung
14	chr7:111701600-111707800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:111701800-111705200	Weak transcription	Ovary	ovary
16	chr7:111702000-111707600	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:111702200-111710800	Enhancers	Brain Substantia Nigra	brain
18	chr7:111702600-111710600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:111703800-111706400	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:111703800-111711000	Enhancers	Brain Hippocampus Middle	brain
21	chr7:111704000-111706400	Enhancers	Brain Anterior Caudate	brain
22	chr7:111704400-111710000	Weak transcription	Left Ventricle	heart
23	chr7:111704400-111710200	Enhancers	Brain Angular Gyrus	brain
24	chr7:111704400-111716200	Weak transcription	NHLF	lung
25	chr7:111704800-111705400	Enhancers	Psoas Muscle	Psoas
26	chr7:111704800-111706000	Enhancers	NHEK	skin
27	chr7:111704800-111706200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:111704800-111707400	Weak transcription	Fetal Kidney	kidney
29	chr7:111705000-111705400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:111705000-111706400	Enhancers	HepG2	liver

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