Variant report

Variant	rs11986346
Chromosome Location	chr8:121029058-121029059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10087551	1.00[ASN][1000 genomes]
rs11996625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12386849	0.93[ASN][1000 genomes]
rs12542032	0.93[ASN][1000 genomes]
rs12547479	1.00[ASN][1000 genomes]
rs12548223	0.81[ASN][1000 genomes]
rs1401811	0.93[ASN][1000 genomes]
rs1519812	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17822044	0.97[ASN][1000 genomes]
rs1973732	0.97[ASN][1000 genomes]
rs2326431	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871718	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66608823	0.93[ASN][1000 genomes]
rs67282053	0.96[ASN][1000 genomes]
rs72673678	0.95[ASN][1000 genomes]
rs7813041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817522	0.93[ASN][1000 genomes]
rs9656934	0.93[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:49 , 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	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
6	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
7	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
9	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
12	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
13	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:121020000-121030800	Weak transcription	Gastric	stomach
15	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
17	chr8:121021600-121029600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:121021600-121038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:121021600-121042000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:121022000-121030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:121022000-121031600	Weak transcription	Brain Substantia Nigra	brain
22	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:121022400-121030200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
25	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:121023800-121029800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:121024000-121029800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:121024200-121029200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:121024600-121029600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:121025200-121030200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:121025800-121033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:121026400-121036000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:121027200-121029600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:121027400-121029200	Strong transcription	Fetal Stomach	stomach
35	chr8:121027600-121029800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:121027600-121030000	Strong transcription	Fetal Intestine Large	intestine
37	chr8:121028000-121029400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:121028000-121029600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:121028000-121043800	Weak transcription	Liver	Liver
40	chr8:121028200-121030800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:121028400-121029200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:121028400-121029400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:121028400-121029400	Weak transcription	Ovary	ovary
44	chr8:121028400-121029800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:121029000-121029600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:121029000-121030400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:121029000-121030800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:121029000-121030800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:121029000-121032000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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