Variant report

Variant	rs2139435
Chromosome Location	chr8:121003863-121003864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10110144	0.89[ASN][1000 genomes]
rs11986628	0.89[EUR][1000 genomes]
rs1543200	0.89[EUR][1000 genomes]
rs1850886	0.86[EUR][1000 genomes]
rs2037342	0.88[EUR][1000 genomes]
rs2037343	0.88[EUR][1000 genomes]
rs2037344	0.88[EUR][1000 genomes]
rs2139436	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139437	0.91[ASN][1000 genomes]
rs2271900	0.89[EUR][1000 genomes]
rs2326429	0.89[ASN][1000 genomes]
rs4053282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4086915	0.88[EUR][1000 genomes]
rs4398969	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520205	0.86[EUR][1000 genomes]
rs4584180	0.89[ASN][1000 genomes]
rs4621850	0.83[EUR][1000 genomes]
rs4870969	0.98[ASN][1000 genomes]
rs4870970	0.87[ASN][1000 genomes]
rs4871030	0.84[ASN][1000 genomes]
rs4871819	0.93[ASN][1000 genomes]
rs4871821	0.89[ASN][1000 genomes]
rs4871822	0.89[ASN][1000 genomes]
rs4871823	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62528700	0.89[ASN][1000 genomes]
rs9297609	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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	chr8:120978000-121013600	Weak transcription	Gastric	stomach
2	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
3	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:121000200-121004400	Weak transcription	Fetal Kidney	kidney
6	chr8:121000600-121004400	Weak transcription	Spleen	Spleen
7	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
8	chr8:121001800-121015600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:121002000-121004000	Enhancers	Stomach Mucosa	stomach
11	chr8:121002000-121004400	Enhancers	Brain Hippocampus Middle	brain
12	chr8:121002200-121005200	Enhancers	Psoas Muscle	Psoas
13	chr8:121002600-121004000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:121002600-121004000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:121002600-121004000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:121002600-121004800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:121002600-121005600	Enhancers	Adipose Nuclei	Adipose
18	chr8:121002600-121006000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:121002800-121004400	Enhancers	Hela-S3	cervix
20	chr8:121002800-121004600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:121002800-121004600	Enhancers	Brain Angular Gyrus	brain
22	chr8:121002800-121006000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:121003200-121004200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:121003200-121004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:121003200-121006600	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:121003200-121015200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:121003200-121015200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:121003400-121004400	Weak transcription	Osteobl	bone
29	chr8:121003400-121004600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:121003400-121005000	Enhancers	Ovary	ovary
31	chr8:121003400-121005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121003600-121004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:121003600-121004000	Enhancers	Right Atrium	heart
34	chr8:121003600-121013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:121003600-121013400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:121003600-121013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:121003600-121015200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:121003800-121004200	Weak transcription	Brain Substantia Nigra	brain
39	chr8:121003800-121007000	Enhancers	Colon Smooth Muscle	Colon
40	chr8:121003800-121013400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:121003800-121014800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:121003800-121015200	Weak transcription	Brain Cingulate Gyrus	brain

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