Variant report

Variant	rs4348499
Chromosome Location	chr8:9485861-9485862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9485608..9489855-chr8:9491266..9494747,4	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10086535	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10090277	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10090998	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090999	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093972	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105767	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105968	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11249940	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11249944	0.86[EUR][1000 genomes]
rs11984920	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11988208	0.84[EUR][1000 genomes]
rs11991831	0.82[EUR][1000 genomes]
rs11995167	0.84[EUR][1000 genomes]
rs12056794	0.81[ASN][1000 genomes]
rs12234900	0.84[EUR][1000 genomes]
rs12234999	0.84[EUR][1000 genomes]
rs12235001	0.84[EUR][1000 genomes]
rs28499425	0.92[EUR][1000 genomes]
rs28562614	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675389	0.84[EUR][1000 genomes]
rs33944167	0.86[EUR][1000 genomes]
rs34614689	0.84[EUR][1000 genomes]
rs35052906	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35420737	0.81[EUR][1000 genomes]
rs35721526	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36036709	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319098	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380943	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383973	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474027	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4612344	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4629869	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5002814	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5002815	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5018578	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55924085	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57000316	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57024674	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57331392	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482128	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57580633	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57987233	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58458097	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58596872	0.88[EUR][1000 genomes]
rs58981097	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59201801	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59268701	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59519630	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59940446	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60051555	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60078276	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60222666	0.88[EUR][1000 genomes]
rs60801852	0.82[EUR][1000 genomes]
rs60857446	0.82[EUR][1000 genomes]
rs60942347	0.86[EUR][1000 genomes]
rs61594550	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61682841	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6422356	0.88[EUR][1000 genomes]
rs6601358	0.86[EUR][1000 genomes]
rs6984737	0.90[EUR][1000 genomes]
rs6986755	0.82[EUR][1000 genomes]
rs6987259	0.84[EUR][1000 genomes]
rs6987746	0.81[EUR][1000 genomes]
rs6990116	0.90[EUR][1000 genomes]
rs6994452	0.82[EUR][1000 genomes]
rs6995292	0.82[EUR][1000 genomes]
rs7000182	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7001395	0.86[EUR][1000 genomes]
rs7002917	0.90[EUR][1000 genomes]
rs7009596	0.88[EUR][1000 genomes]
rs7009863	0.82[EUR][1000 genomes]
rs7014218	0.86[EUR][1000 genomes]
rs7016632	0.90[EUR][1000 genomes]
rs7018268	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7018348	0.88[EUR][1000 genomes]
rs73523222	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73523224	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73523249	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73535828	0.88[EUR][1000 genomes]
rs73537955	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537959	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537971	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73539904	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73539907	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813518	0.82[EUR][1000 genomes]
rs7815297	0.86[EUR][1000 genomes]
rs7815378	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815506	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815644	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818016	0.88[EUR][1000 genomes]
rs7821007	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827395	0.84[EUR][1000 genomes]
rs7837344	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837923	0.88[EUR][1000 genomes]
rs7840161	0.94[EUR][1000 genomes]
rs7846023	0.88[EUR][1000 genomes]
rs9644705	0.82[EUR][1000 genomes]
rs9644706	0.82[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:9471000-9487000	Weak transcription	HepG2	liver
4	chr8:9473200-9486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:9473200-9489400	Weak transcription	HSMM	muscle
6	chr8:9473200-9490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:9473200-9491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:9473200-9491200	Weak transcription	HSMMtube	muscle
9	chr8:9473400-9490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:9481000-9486400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
14	chr8:9481200-9487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:9481400-9487600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:9483200-9486000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:9483600-9486000	Weak transcription	Liver	Liver
20	chr8:9483800-9486000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:9484000-9486400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:9484000-9486800	Enhancers	Brain Angular Gyrus	brain
23	chr8:9484200-9486600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:9484200-9487000	Enhancers	Brain Anterior Caudate	brain
25	chr8:9484400-9486000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:9484400-9486200	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:9484400-9486800	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:9484400-9487800	Enhancers	Brain Hippocampus Middle	brain
29	chr8:9484400-9489000	Enhancers	Brain Substantia Nigra	brain
30	chr8:9484600-9486400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:9484600-9488800	Weak transcription	NHDF-Ad	bronchial
32	chr8:9484600-9490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:9484800-9486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:9484800-9486200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:9484800-9488800	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
37	chr8:9485000-9486000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:9485000-9486200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:9485000-9486400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
42	chr8:9485200-9486200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:9485200-9486200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:9485200-9486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:9485200-9486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:9485200-9486200	Weak transcription	Pancreas	Pancrea
47	chr8:9485200-9486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:9485200-9493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:9485400-9486000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:9485400-9486000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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