Variant report

Variant	rs4380943
Chromosome Location	chr8:9487564-9487565
allele	A/T
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:
2	chr8:9486899..9489855-chr8:9491266..9493165,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10086535	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10090277	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10090998	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090999	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093972	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105767	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105968	1.00[CEU][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11249940	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11249944	0.84[EUR][1000 genomes]
rs11984920	0.88[CEU][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11988208	0.87[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11991831	0.81[EUR][1000 genomes]
rs11995167	0.87[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12056794	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12234900	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12234999	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs12235001	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs28499425	0.90[EUR][1000 genomes]
rs28562614	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675389	0.83[EUR][1000 genomes]
rs33944167	0.84[EUR][1000 genomes]
rs33972793	0.81[AFR][1000 genomes]
rs34614689	0.83[EUR][1000 genomes]
rs35052906	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35721526	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36036709	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348499	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383973	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474027	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4612344	1.00[CEU][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4629869	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4841215	0.87[CEU][hapmap]
rs5002814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5002815	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5018578	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55924085	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57000316	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57024674	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57331392	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482128	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57580633	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57987233	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58458097	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58596872	0.86[EUR][1000 genomes]
rs58981097	0.84[AMR][1000 genomes]
rs59201801	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59268701	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59519630	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59940446	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60051555	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60078276	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60222666	0.86[EUR][1000 genomes]
rs60801852	0.81[EUR][1000 genomes]
rs60857446	0.81[EUR][1000 genomes]
rs60942347	0.84[EUR][1000 genomes]
rs61594550	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61682841	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6422356	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs6601358	0.84[EUR][1000 genomes]
rs6984737	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6985140	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6986755	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6987259	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6990116	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs6994452	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs6995292	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7000182	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7001395	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs7002917	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7009596	0.86[EUR][1000 genomes]
rs7009863	0.84[EUR][1000 genomes]
rs7010154	0.87[CEU][hapmap]
rs7014218	0.84[EUR][1000 genomes]
rs7016632	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7018268	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7018348	0.86[EUR][1000 genomes]
rs73523222	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73523224	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73523249	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73535828	0.90[EUR][1000 genomes]
rs73537955	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537959	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537971	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73539904	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73539907	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73662516	0.81[EUR][1000 genomes]
rs7813518	0.81[EUR][1000 genomes]
rs7815297	0.84[EUR][1000 genomes]
rs7815378	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815506	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815644	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818016	0.86[EUR][1000 genomes]
rs7821007	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827395	0.83[EUR][1000 genomes]
rs7837344	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837923	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7840161	0.92[EUR][1000 genomes]
rs7846023	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs9644705	0.84[EUR][1000 genomes]
rs9644706	0.81[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:9473200-9489400	Weak transcription	HSMM	muscle
3	chr8:9473200-9490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:9473200-9491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:9473200-9491200	Weak transcription	HSMMtube	muscle
6	chr8:9473400-9490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:9481200-9487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:9481400-9487600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:9484400-9487800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:9484400-9489000	Enhancers	Brain Substantia Nigra	brain
16	chr8:9484600-9488800	Weak transcription	NHDF-Ad	bronchial
17	chr8:9484600-9490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:9484800-9488800	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
20	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
22	chr8:9485200-9493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:9485400-9487800	Enhancers	Small Intestine	intestine
24	chr8:9485600-9498200	Weak transcription	Ovary	ovary
25	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:9485800-9490800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
29	chr8:9486000-9487800	Enhancers	Liver	Liver
30	chr8:9486000-9488000	Enhancers	Stomach Mucosa	stomach
31	chr8:9486200-9494400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:9486400-9492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:9486400-9493400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:9486400-9494400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:9486600-9493400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:9486800-9487800	Weak transcription	Brain Angular Gyrus	brain
38	chr8:9486800-9494400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:9487000-9487600	Weak transcription	Brain Anterior Caudate	brain
40	chr8:9487000-9488000	Enhancers	HepG2	liver
41	chr8:9487200-9487600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:9487200-9489200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:9487400-9487800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:9487400-9489400	Weak transcription	Osteobl	bone
46	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood

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