Variant report

Variant	rs1973732
Chromosome Location	chr8:121030706-121030707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087551	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11986346	0.97[ASN][1000 genomes]
rs11996625	1.00[ASN][1000 genomes]
rs12386849	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12542032	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12545676	0.81[ASN][1000 genomes]
rs12547479	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1401811	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1519812	0.97[ASN][1000 genomes]
rs17822044	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326431	1.00[ASN][1000 genomes]
rs28464637	0.84[EUR][1000 genomes]
rs4871717	0.97[ASN][1000 genomes]
rs4871718	0.93[ASN][1000 genomes]
rs4871720	0.97[ASN][1000 genomes]
rs4871825	1.00[ASN][1000 genomes]
rs58466445	0.83[EUR][1000 genomes]
rs60497698	0.83[EUR][1000 genomes]
rs60717250	0.81[ASN][1000 genomes]
rs66608823	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67282053	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72673678	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813041	0.95[ASN][1000 genomes]
rs7817522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843503	0.81[ASN][1000 genomes]
rs960887	0.81[ASN][1000 genomes]
rs9656934	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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:42 , 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	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
6	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
7	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
9	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
10	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:121020000-121030800	Weak transcription	Gastric	stomach
12	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
14	chr8:121021600-121038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:121021600-121042000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:121022000-121031600	Weak transcription	Brain Substantia Nigra	brain
17	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
19	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:121025800-121033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121026400-121036000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:121028000-121043800	Weak transcription	Liver	Liver
23	chr8:121028200-121030800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:121029000-121030800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121029000-121030800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:121029000-121032000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:121029200-121031200	Enhancers	Colon Smooth Muscle	Colon
28	chr8:121029200-121032200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:121029400-121031200	Enhancers	Ovary	ovary
30	chr8:121029600-121031200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:121029800-121031000	Enhancers	Rectal Smooth Muscle	rectum
32	chr8:121029800-121031800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:121030000-121030800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:121030000-121030800	Weak transcription	Fetal Intestine Large	intestine
36	chr8:121030200-121031000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:121030200-121032200	Enhancers	Brain Hippocampus Middle	brain
38	chr8:121030400-121030800	Enhancers	Fetal Muscle Trunk	muscle
39	chr8:121030600-121031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:121030600-121032000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:121030600-121032200	Genic enhancers	Fetal Stomach	stomach
42	chr8:121030600-121037000	Weak transcription	Stomach Smooth Muscle	stomach

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