Variant report

Variant	rs73539907
Chromosome Location	chr8:9473800-9473801
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10086535	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090277	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10090998	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10090999	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10093972	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10105767	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10105968	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11249940	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249944	0.86[EUR][1000 genomes]
rs11984920	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11988208	0.88[EUR][1000 genomes]
rs11991831	0.86[EUR][1000 genomes]
rs11995167	0.88[EUR][1000 genomes]
rs12056794	0.80[EUR][1000 genomes];0.82[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]
rs28499425	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28562614	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28675389	0.88[EUR][1000 genomes]
rs3209608	0.82[EUR][1000 genomes]
rs33944167	0.90[EUR][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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36036709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4319098	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348499	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4380943	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4383973	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474027	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612344	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4629869	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002814	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5002815	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5018578	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55924085	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57000316	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57024674	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57331392	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57482128	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57580633	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57987233	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58458097	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58596872	0.92[EUR][1000 genomes]
rs58981097	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59201801	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59268701	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59519630	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59940446	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60051555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60078276	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60222666	0.92[EUR][1000 genomes]
rs60801852	0.86[EUR][1000 genomes]
rs60857446	0.86[EUR][1000 genomes]
rs60942347	0.90[EUR][1000 genomes]
rs61594550	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61682841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6422356	0.88[EUR][1000 genomes]
rs6601358	0.90[EUR][1000 genomes]
rs6981763	0.82[EUR][1000 genomes]
rs6984737	0.94[EUR][1000 genomes]
rs6985140	0.82[EUR][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	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7001395	0.90[EUR][1000 genomes]
rs7002917	0.94[EUR][1000 genomes]
rs7009596	0.88[EUR][1000 genomes]
rs7009863	0.90[EUR][1000 genomes]
rs7013369	0.82[EUR][1000 genomes]
rs7014218	0.90[EUR][1000 genomes]
rs7016632	0.94[EUR][1000 genomes]
rs7018268	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7018348	0.92[EUR][1000 genomes]
rs73523222	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73523224	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73523249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73535828	0.96[EUR][1000 genomes]
rs73537955	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73537959	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73537971	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73539904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662516	0.86[EUR][1000 genomes]
rs7813518	0.86[EUR][1000 genomes]
rs7815297	0.90[EUR][1000 genomes]
rs7815378	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815506	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815644	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818016	0.92[EUR][1000 genomes]
rs7821007	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827395	0.88[EUR][1000 genomes]
rs7829677	0.82[EUR][1000 genomes]
rs7837344	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837923	0.92[EUR][1000 genomes]
rs7840161	0.98[EUR][1000 genomes]
rs7846023	0.92[EUR][1000 genomes]
rs9644705	0.90[EUR][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:9462200-9473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:9463000-9479800	Weak transcription	Dnd41	blood
5	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:9466400-9479800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:9466400-9483200	Weak transcription	Liver	Liver
10	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:9468800-9473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:9468800-9474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:9468800-9476600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:9469000-9473800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:9469000-9476600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:9470200-9473800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:9470400-9474600	Enhancers	Fetal Heart	heart
20	chr8:9470400-9475000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:9470600-9473800	Enhancers	Colon Smooth Muscle	Colon
22	chr8:9470600-9474600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:9470800-9476200	Weak transcription	Placenta	Placenta
24	chr8:9470800-9476800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:9471000-9479800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:9471000-9487000	Weak transcription	HepG2	liver
27	chr8:9471600-9474000	Enhancers	Adipose Nuclei	Adipose
28	chr8:9471800-9475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:9472000-9474200	Weak transcription	HUVEC	blood vessel
30	chr8:9472000-9476200	Weak transcription	HMEC	breast
31	chr8:9472200-9474600	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:9472200-9475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:9472400-9479000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:9472400-9479800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:9472400-9483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:9472600-9474000	Enhancers	Brain Hippocampus Middle	brain
37	chr8:9472600-9474200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:9472800-9473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:9472800-9474600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:9472800-9474600	Enhancers	Brain Anterior Caudate	brain
41	chr8:9472800-9475400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:9472800-9479000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:9472800-9479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:9472800-9481200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:9472800-9484600	Weak transcription	Small Intestine	intestine
46	chr8:9473000-9476600	Weak transcription	Brain Substantia Nigra	brain
47	chr8:9473000-9477400	Weak transcription	NH-A	brain
48	chr8:9473200-9473800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:9473200-9473800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr8:9473200-9475600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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