Variant report

Variant	rs4398969
Chromosome Location	chr8:120999651-120999652
allele	C/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]
rs10110144	0.89[ASN][1000 genomes]
rs11986628	0.90[EUR][1000 genomes]
rs1543200	0.90[EUR][1000 genomes]
rs1850886	0.87[EUR][1000 genomes]
rs2037342	0.89[EUR][1000 genomes]
rs2037343	0.89[EUR][1000 genomes]
rs2037344	0.89[EUR][1000 genomes]
rs2139435	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139436	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139437	0.91[ASN][1000 genomes]
rs2271900	0.90[EUR][1000 genomes]
rs2326429	0.89[ASN][1000 genomes]
rs4053282	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4086915	0.89[EUR][1000 genomes]
rs4520205	0.87[EUR][1000 genomes]
rs4584180	0.89[ASN][1000 genomes]
rs4621850	0.84[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	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871824	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62528700	0.89[ASN][1000 genomes]
rs9297609	0.90[EUR][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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120978000-121013600	Weak transcription	Gastric	stomach
2	chr8:120990800-121001600	Weak transcription	Ovary	ovary
3	chr8:120991000-120999800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
5	chr8:120991400-121003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:120995200-121000000	Weak transcription	Left Ventricle	heart
7	chr8:120995400-121000000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:120995400-121002600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:120995400-121002800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:120995800-121000000	Weak transcription	Lung	lung
12	chr8:120995800-121002800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:120995800-121002800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:120995800-121003400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:120996000-121003200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:120996200-121001400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:120996400-121000000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:120996400-121000200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:120996400-121001400	Weak transcription	Small Intestine	intestine
21	chr8:120996400-121001600	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:120996400-121002600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:120996400-121002600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:120996600-121000000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:120996600-121000200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:120996600-121001600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:120996800-121003000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:120999400-121000200	Enhancers	Fetal Kidney	kidney
29	chr8:120999400-121000200	Enhancers	Psoas Muscle	Psoas
30	chr8:120999400-121000400	Enhancers	Stomach Mucosa	stomach
31	chr8:120999400-121000600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:120999400-121000600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:120999400-121000800	Enhancers	Placenta	Placenta
34	chr8:120999600-120999800	Genic enhancers	Fetal Intestine Small	intestine
35	chr8:120999600-121000000	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:120999600-121000200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:120999600-121000600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:120999600-121000600	Enhancers	Spleen	Spleen

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