Variant report

Variant	rs10277083
Chromosome Location	chr7:111492486-111492487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10085411	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10085418	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10230127	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10249065	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255299	0.85[EUR][1000 genomes]
rs10257550	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10269918	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59559298	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6971767	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking 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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111449600-111500600	Weak transcription	Fetal Kidney	kidney
2	chr7:111461000-111493200	Weak transcription	Pancreas	Pancrea
3	chr7:111461800-111505200	Weak transcription	Aorta	Aorta
4	chr7:111463600-111499200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:111467600-111495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:111475800-111495200	Weak transcription	HMEC	breast
7	chr7:111476000-111495000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:111477000-111527600	Weak transcription	A549	lung
9	chr7:111477200-111507000	Weak transcription	Psoas Muscle	Psoas
10	chr7:111480400-111493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:111481000-111554000	Weak transcription	Placenta	Placenta
12	chr7:111482400-111504400	Weak transcription	Osteobl	bone
13	chr7:111483000-111493200	Weak transcription	Esophagus	oesophagus
14	chr7:111483000-111498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:111483000-111500200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:111483000-111513000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:111484400-111514200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:111484600-111492800	Weak transcription	Fetal Stomach	stomach
19	chr7:111485200-111495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:111485600-111500000	Weak transcription	Right Ventricle	heart
21	chr7:111486800-111493000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:111486800-111493000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:111486800-111493000	Weak transcription	Lung	lung
24	chr7:111487000-111493000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:111487000-111493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:111487000-111495000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:111487000-111500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:111487000-111507000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:111487000-111513400	Weak transcription	Fetal Brain Male	brain
30	chr7:111487200-111493000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:111487200-111493000	Weak transcription	Ovary	ovary
32	chr7:111487200-111493200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:111487200-111500200	Weak transcription	Left Ventricle	heart
34	chr7:111487200-111500200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:111487200-111506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:111487200-111537600	Weak transcription	HepG2	liver
37	chr7:111487400-111493000	Weak transcription	Brain Angular Gyrus	brain
38	chr7:111487400-111493000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:111487400-111493000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:111487400-111498600	Weak transcription	Fetal Brain Female	brain
41	chr7:111487400-111500000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:111488800-111500200	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:111489000-111495200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:111489600-111493600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:111489800-111498400	Weak transcription	Fetal Lung	lung
46	chr7:111490600-111492800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:111490600-111495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:111490600-111495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:111490600-111500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:111490600-111500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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