Variant report

Variant	rs7780217
Chromosome Location	chr7:111694380-111694381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17159177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56031125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58710544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59077533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60585632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60589023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943599	0.86[AFR][1000 genomes]
rs73432719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432731	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7780545	1.00[AFR][1000 genomes];1.00[AMR][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	chr7:111678800-111701200	Weak transcription	Right Atrium	heart
2	chr7:111683000-111698400	Weak transcription	HUVEC	blood vessel
3	chr7:111688200-111705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:111690800-111696000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:111691000-111700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:111691400-111701200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:111692400-111696600	Weak transcription	NHEK	skin
8	chr7:111692600-111697000	Enhancers	Fetal Lung	lung
9	chr7:111693400-111698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:111693800-111700600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:111694000-111695200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:111694000-111695200	Weak transcription	A549	lung
13	chr7:111694000-111695400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:111694000-111696000	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:111694000-111696600	Weak transcription	Liver	Liver
16	chr7:111694000-111696600	Weak transcription	HepG2	liver
17	chr7:111694000-111698600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:111694000-111699600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:111694000-111700400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:111694000-111701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:111694000-111701400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:111694000-111704400	Weak transcription	Brain Angular Gyrus	brain
23	chr7:111694000-111712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:111694000-111714600	Weak transcription	Aorta	Aorta
25	chr7:111694200-111695400	Weak transcription	Lung	lung
26	chr7:111694200-111695400	Weak transcription	Psoas Muscle	Psoas
27	chr7:111694200-111697200	Weak transcription	Left Ventricle	heart
28	chr7:111694200-111697200	Weak transcription	Ovary	ovary
29	chr7:111694200-111706200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:111694200-111712600	Weak transcription	Pancreas	Pancrea

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