Variant report

Variant	rs57580633
Chromosome Location	chr8:9510485-9510486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10086535	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090277	0.92[EUR][1000 genomes]
rs10090998	0.82[EUR][1000 genomes]
rs10090999	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10093972	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105767	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105968	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11249940	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11249944	0.86[EUR][1000 genomes]
rs11984920	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11988208	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11991831	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11995167	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12056794	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12234900	0.88[EUR][1000 genomes]
rs12234999	0.88[EUR][1000 genomes]
rs12235001	0.88[EUR][1000 genomes]
rs28495967	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28499425	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28562614	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28675389	0.88[EUR][1000 genomes]
rs3209608	0.82[EUR][1000 genomes]
rs33944167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34614689	0.88[EUR][1000 genomes]
rs35052906	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35420737	0.84[EUR][1000 genomes]
rs35721526	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36036709	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4319098	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4348499	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4380943	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4383973	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4474027	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4529464	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4612344	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4629869	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5002814	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5002815	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5018578	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55924085	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57000316	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57024674	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57331392	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57482128	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57987233	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58458097	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58596872	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58981097	0.84[EUR][1000 genomes]
rs59201801	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59268701	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59519630	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59940446	0.94[EUR][1000 genomes]
rs60051555	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60078276	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60222666	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60801852	0.86[EUR][1000 genomes]
rs60857446	0.86[EUR][1000 genomes]
rs60942347	0.90[EUR][1000 genomes]
rs61594550	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61682841	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422356	0.88[EUR][1000 genomes]
rs6601358	0.90[EUR][1000 genomes]
rs6981763	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6984737	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6985140	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6986755	0.86[EUR][1000 genomes]
rs6987259	0.88[EUR][1000 genomes]
rs6987746	0.84[EUR][1000 genomes]
rs6990116	0.90[EUR][1000 genomes]
rs6994452	0.86[EUR][1000 genomes]
rs6995292	0.86[EUR][1000 genomes]
rs7000182	0.92[EUR][1000 genomes]
rs7001395	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7002917	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7009596	0.88[EUR][1000 genomes]
rs7009863	0.86[EUR][1000 genomes]
rs7013369	0.82[EUR][1000 genomes]
rs7014218	0.90[EUR][1000 genomes]
rs7016632	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018268	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018348	0.92[EUR][1000 genomes]
rs73523222	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73523224	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73523249	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73535828	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73537955	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73537959	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73537971	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73539904	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73539907	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73662516	0.82[EUR][1000 genomes]
rs7813518	0.86[EUR][1000 genomes]
rs7815297	0.90[EUR][1000 genomes]
rs7815378	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815506	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815644	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818016	0.92[EUR][1000 genomes]
rs7821007	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827395	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7829677	0.82[EUR][1000 genomes]
rs7837344	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7837923	0.92[EUR][1000 genomes]
rs7840161	0.98[EUR][1000 genomes]
rs7846023	0.92[EUR][1000 genomes]
rs9644705	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9644706	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
3	chr8:9495800-9531000	Weak transcription	Gastric	stomach
4	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:9500400-9510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:9501200-9511200	Weak transcription	Right Atrium	heart
7	chr8:9501600-9511000	Weak transcription	Ovary	ovary
8	chr8:9501600-9511400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:9501600-9525400	Weak transcription	Thymus	Thymus
10	chr8:9501800-9528400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
12	chr8:9502800-9511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:9503000-9521200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:9504200-9529400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:9504400-9512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
17	chr8:9505200-9510800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:9505400-9510600	Weak transcription	Primary T cells from cord blood	blood
19	chr8:9506000-9521200	Weak transcription	Aorta	Aorta
20	chr8:9506400-9530200	Weak transcription	HepG2	liver
21	chr8:9507600-9511400	Enhancers	NHDF-Ad	bronchial
22	chr8:9507800-9529400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:9508000-9511600	Enhancers	Osteobl	bone
24	chr8:9508000-9512600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:9508200-9510600	Enhancers	NHLF	lung
26	chr8:9508200-9512200	Weak transcription	Fetal Thymus	thymus
27	chr8:9508400-9510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:9508400-9521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:9509000-9513200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr8:9509000-9513400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:9509000-9514000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:9509200-9510800	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:9509200-9511600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:9509200-9512200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:9509200-9512400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:9509200-9522400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:9509400-9510600	Enhancers	NH-A	brain
38	chr8:9509400-9510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:9509400-9510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:9509400-9510800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:9509400-9511000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:9509400-9511200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:9509400-9511400	Weak transcription	Brain Substantia Nigra	brain
44	chr8:9509400-9511400	Weak transcription	Fetal Lung	lung
45	chr8:9509400-9512200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:9509400-9512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:9509400-9512400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:9509400-9512400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:9509400-9512600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:9509400-9512800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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