Variant report

Variant	rs2376489
Chromosome Location	chr8:42890935-42890936
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10107370	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1081885	0.84[AMR][1000 genomes]
rs1081886	0.84[AMR][1000 genomes]
rs10958736	0.88[ASN][1000 genomes]
rs1129987	0.81[ASN][1000 genomes]
rs13261180	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13280254	0.85[ASN][1000 genomes]
rs1620525	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1625050	0.84[AMR][1000 genomes]
rs1648119	0.86[AMR][1000 genomes]
rs1648120	0.86[AMR][1000 genomes]
rs1648121	0.85[ASN][1000 genomes]
rs2042674	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2376490	0.90[ASN][1000 genomes]
rs28626408	0.85[ASN][1000 genomes]
rs3867147	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4236927	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4294230	0.83[ASN][1000 genomes]
rs4512420	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4523300	0.82[ASN][1000 genomes]
rs4736844	0.81[ASN][1000 genomes]
rs4737080	0.93[AMR][1000 genomes]
rs6474429	0.83[ASN][1000 genomes]
rs7001861	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7012985	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7016673	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs773070	0.84[AMR][1000 genomes]
rs773072	0.84[AMR][1000 genomes]
rs7819737	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs798827	0.94[AFR][1000 genomes];0.93[AMR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
2	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:42873800-42891000	Weak transcription	NHLF	lung
4	chr8:42873800-42891400	Weak transcription	Esophagus	oesophagus
5	chr8:42873800-42891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:42873800-42892200	Weak transcription	Gastric	stomach
7	chr8:42874200-42891400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:42875000-42891200	Weak transcription	Fetal Kidney	kidney
9	chr8:42875600-42891800	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:42876000-42891000	Weak transcription	NHDF-Ad	bronchial
11	chr8:42876000-42891200	Weak transcription	Psoas Muscle	Psoas
12	chr8:42876000-42892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:42876200-42891000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:42876200-42891400	Weak transcription	Left Ventricle	heart
15	chr8:42876400-42891400	Weak transcription	HUVEC	blood vessel
16	chr8:42876400-42891600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:42876400-42891800	Weak transcription	NH-A	brain
18	chr8:42876600-42895200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:42880000-42891200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:42880600-42891000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:42882000-42892200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:42889600-42893200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:42890000-42891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:42890000-42891600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:42890000-42891800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:42890000-42891800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:42890000-42891800	Weak transcription	Thymus	Thymus
28	chr8:42890000-42892200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:42890000-42893000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:42890200-42891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:42890200-42891200	Weak transcription	Fetal Brain Female	brain
32	chr8:42890200-42891400	Weak transcription	Fetal Lung	lung
33	chr8:42890200-42891400	Weak transcription	Spleen	Spleen
34	chr8:42890200-42891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:42890200-42891800	Weak transcription	Aorta	Aorta
36	chr8:42890200-42891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:42890200-42891800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:42890200-42891800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:42890200-42891800	Weak transcription	HSMM	muscle
40	chr8:42890200-42892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:42890200-42892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:42890200-42892000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:42890200-42892000	Weak transcription	Primary T cells from cord blood	blood
44	chr8:42890200-42892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:42890200-42892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:42890200-42892000	Weak transcription	Adipose Nuclei	Adipose
47	chr8:42890200-42892000	Weak transcription	Brain Angular Gyrus	brain
48	chr8:42890200-42892000	Weak transcription	Brain Anterior Caudate	brain
49	chr8:42890200-42892000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:42890200-42892000	Weak transcription	Brain Hippocampus Middle	brain

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