Variant report

Variant	rs12680396
Chromosome Location	chr8:121032777-121032778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121022467..121024614-chr8:121031639..121034305,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10110144	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10955946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955947	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986202	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13266382	0.83[AMR][1000 genomes]
rs13272368	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356748	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2139434	0.84[AMR][1000 genomes]
rs2326429	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4584180	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4870970	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871719	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871821	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871822	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58564644	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60657932	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62528700	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469890	0.98[ASN][1000 genomes]
rs6997067	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833689	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9642847	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643139	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643140	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
3	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
5	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
7	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
10	chr8:121021600-121038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:121021600-121042000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
14	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:121025800-121033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:121026400-121036000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr8:121028000-121043800	Weak transcription	Liver	Liver
18	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:121030600-121037000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:121030800-121033000	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:121030800-121035400	Strong transcription	Fetal Intestine Small	intestine
22	chr8:121030800-121035600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:121031200-121034400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:121031200-121036200	Weak transcription	Spleen	Spleen
25	chr8:121032000-121039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:121032000-121041800	Weak transcription	Brain Substantia Nigra	brain
27	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
28	chr8:121032200-121033000	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:121032200-121034400	Strong transcription	Fetal Stomach	stomach
30	chr8:121032200-121034600	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:121032200-121035200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:121032200-121036800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:121032200-121036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:121032200-121041800	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:121032200-121041800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:121032200-121044800	Weak transcription	Gastric	stomach
37	chr8:121032400-121036600	Weak transcription	Fetal Intestine Large	intestine
38	chr8:121032400-121044800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121032600-121033000	Strong transcription	Ovary	ovary

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