Variant report

Variant	rs57047177
Chromosome Location	chr8:131071795-131071796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12675936	0.85[ASN][1000 genomes]
rs12676577	0.92[ASN][1000 genomes]
rs16904201	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55815182	0.82[AMR][1000 genomes]
rs73405563	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73425364	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7822764	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
2	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:131061200-131074600	Weak transcription	Psoas Muscle	Psoas
4	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:131062600-131072800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:131062600-131073200	Strong transcription	HUVEC	blood vessel
7	chr8:131062600-131073200	Strong transcription	NHLF	lung
8	chr8:131062600-131073400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:131062600-131073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:131062600-131074800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:131062800-131073400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:131062800-131073600	Strong transcription	Osteobl	bone
14	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:131063000-131073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:131063000-131073600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:131063000-131073600	Strong transcription	A549	lung
18	chr8:131063000-131074000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:131063200-131073400	Strong transcription	NH-A	brain
20	chr8:131063400-131072800	Strong transcription	NHDF-Ad	bronchial
21	chr8:131063400-131073000	Strong transcription	Primary B cells from cord blood	blood
22	chr8:131063400-131073000	Strong transcription	Primary T cells from cord blood	blood
23	chr8:131063600-131073000	Strong transcription	Liver	Liver
24	chr8:131063600-131073400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:131063600-131073400	Strong transcription	Left Ventricle	heart
26	chr8:131063600-131073400	Strong transcription	Lung	lung
27	chr8:131063600-131074000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131063800-131073000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:131063800-131073400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:131063800-131073400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:131063800-131074200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:131064200-131073200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:131064200-131074600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:131064200-131075000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:131064600-131073000	Strong transcription	HMEC	breast
37	chr8:131065000-131073200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:131065000-131073400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:131065000-131073400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:131065000-131073400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131065200-131073200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:131065200-131073200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:131065200-131073400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:131065400-131073200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr8:131065600-131072800	Strong transcription	HSMM	muscle
46	chr8:131065600-131073200	Strong transcription	Dnd41	blood
47	chr8:131065600-131073400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:131065800-131073000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr8:131066000-131072600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:131066000-131072800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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