Variant report

Variant	rs57453266
Chromosome Location	chr8:9430050-9430051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9419871..9422970-chr8:9429939..9431481,3	K562	blood:
2	chr8:9419871..9422970-chr8:9428718..9431481,5	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10087012	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087166	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087749	0.82[EUR][1000 genomes]
rs10088037	0.82[EUR][1000 genomes]
rs10088039	0.81[EUR][1000 genomes]
rs10088401	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10088969	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097438	0.82[EUR][1000 genomes]
rs10098758	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10101953	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102030	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103426	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10103752	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10111980	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112051	0.85[ASN][1000 genomes]
rs10112600	0.82[EUR][1000 genomes]
rs10112821	0.82[EUR][1000 genomes]
rs10503380	0.82[EUR][1000 genomes]
rs10903314	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10903315	0.80[EUR][1000 genomes]
rs11249931	0.80[EUR][1000 genomes]
rs11984585	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985349	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993506	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11994420	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11995920	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12335063	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12541409	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12543534	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12548306	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12674762	0.80[EUR][1000 genomes]
rs12675476	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675511	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12676898	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679892	0.87[ASN][1000 genomes]
rs12680098	0.80[EUR][1000 genomes]
rs12681719	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13271097	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17150237	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28374482	0.84[ASN][1000 genomes]
rs28561748	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28622033	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28668310	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693007	0.83[ASN][1000 genomes]
rs28695930	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28716261	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33945943	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34206126	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34324628	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34790717	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4128199	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4240626	0.80[EUR][1000 genomes]
rs4282575	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4310210	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4320547	0.81[ASN][1000 genomes]
rs4372006	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4398920	0.80[EUR][1000 genomes]
rs4407883	0.82[EUR][1000 genomes]
rs4418340	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464970	0.81[ASN][1000 genomes]
rs4483157	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4493905	0.82[EUR][1000 genomes]
rs4568626	0.82[EUR][1000 genomes]
rs4576424	0.80[ASN][1000 genomes]
rs4579533	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4582568	0.82[EUR][1000 genomes]
rs4840427	0.96[ASN][1000 genomes]
rs4840428	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4840431	0.80[EUR][1000 genomes]
rs4841173	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841179	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841182	0.80[EUR][1000 genomes]
rs4841183	0.80[EUR][1000 genomes]
rs55917145	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58238328	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59775058	0.88[ASN][1000 genomes]
rs61551896	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62493868	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601330	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601331	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601332	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601333	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601334	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601335	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601336	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601337	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6601339	0.82[EUR][1000 genomes]
rs6651495	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6651496	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6651501	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6651502	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66516712	0.87[EUR][1000 genomes]
rs67706102	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980831	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6986386	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6989126	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990097	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6990590	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6996976	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013500	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73193784	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7462102	0.82[EUR][1000 genomes]
rs7464185	0.82[EUR][1000 genomes]
rs7464226	0.81[EUR][1000 genomes]
rs7814014	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7815817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821559	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7822548	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832096	0.82[EUR][1000 genomes]
rs7834823	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7841069	0.83[AMR][1000 genomes]
rs7841074	0.83[AMR][1000 genomes]
rs7844450	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846140	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9329202	0.83[AMR][1000 genomes]
rs9329203	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9644677	0.83[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
5	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:9416600-9430200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
11	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:9417600-9437600	Weak transcription	Dnd41	blood
13	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:9418600-9434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:9422000-9432400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:9422400-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
19	chr8:9425800-9435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:9426200-9430800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:9426200-9431400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:9427000-9430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:9427000-9435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
25	chr8:9428000-9433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:9428000-9434600	Weak transcription	HepG2	liver
27	chr8:9428000-9435400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:9428200-9434800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:9428200-9435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:9428200-9435400	Weak transcription	Gastric	stomach
31	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:9428400-9433400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:9428400-9435000	Weak transcription	Right Ventricle	heart
34	chr8:9428400-9435200	Weak transcription	Aorta	Aorta
35	chr8:9428400-9435200	Weak transcription	Ovary	ovary
36	chr8:9428400-9435400	Weak transcription	Left Ventricle	heart
37	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
38	chr8:9428800-9435000	Weak transcription	Fetal Heart	heart
39	chr8:9429000-9437200	Weak transcription	Brain Angular Gyrus	brain
40	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
41	chr8:9429200-9437800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:9429400-9430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:9429400-9431000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:9429400-9431000	Enhancers	Brain Anterior Caudate	brain
45	chr8:9429400-9431200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:9429400-9432400	Enhancers	Brain Hippocampus Middle	brain
47	chr8:9429600-9430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:9429600-9431000	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:9429800-9430200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:9430000-9430200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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