Variant report

Variant	rs6989126
Chromosome Location	chr8:9434389-9434390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10087012	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10087166	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10087749	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10088037	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10088039	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10088401	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10088969	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097438	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10098758	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10101953	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10102030	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103426	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10103752	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111980	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112051	0.83[ASN][1000 genomes]
rs10112600	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10112821	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10503380	0.84[EUR][1000 genomes]
rs10903314	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10903315	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11249931	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11984585	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11985349	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11993506	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11994420	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11995920	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12335063	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12541409	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12543534	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12548306	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12674762	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12675476	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12675511	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12675893	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12676898	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12679892	0.85[ASN][1000 genomes]
rs12680098	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12681719	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12682247	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13262577	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13271097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13276750	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17150237	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28374482	0.82[ASN][1000 genomes]
rs28561748	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28622033	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28668310	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28693007	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28695930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28716261	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs33945943	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34206126	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34324628	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34790717	0.83[EUR][1000 genomes]
rs4128199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240626	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4282575	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4310210	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4320547	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4372006	0.83[EUR][1000 genomes]
rs4398920	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4407883	0.84[EUR][1000 genomes]
rs4418340	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4464970	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4483157	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4493905	0.84[EUR][1000 genomes]
rs4510870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4568626	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4576424	0.82[ASN][1000 genomes]
rs4579533	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4582568	0.84[EUR][1000 genomes]
rs4840427	0.97[ASN][1000 genomes]
rs4840428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4840431	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841173	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841174	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841175	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841179	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841182	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841183	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55917145	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57453266	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58238328	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59775058	0.86[ASN][1000 genomes]
rs61551896	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62493868	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601330	0.80[EUR][1000 genomes]
rs6601331	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6601332	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601333	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601334	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601335	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601336	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601339	0.83[EUR][1000 genomes]
rs6651495	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6651496	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6651501	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6651502	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66516712	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67706102	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6980831	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6986386	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987698	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6990590	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6996976	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013500	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73193784	0.84[EUR][1000 genomes]
rs7462102	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464185	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464226	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7814014	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815817	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821559	0.80[EUR][1000 genomes]
rs7822548	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7832096	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7834823	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844450	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846140	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9329203	0.85[EUR][1000 genomes]
rs9644677	0.86[AMR][1000 genomes];0.80[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:69 , 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	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
7	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:9417600-9437600	Weak transcription	Dnd41	blood
9	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:9418600-9434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:9422400-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
14	chr8:9425800-9435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:9427000-9435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
17	chr8:9428000-9434600	Weak transcription	HepG2	liver
18	chr8:9428000-9435400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:9428200-9434800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:9428200-9435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:9428200-9435400	Weak transcription	Gastric	stomach
22	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:9428400-9435000	Weak transcription	Right Ventricle	heart
24	chr8:9428400-9435200	Weak transcription	Aorta	Aorta
25	chr8:9428400-9435200	Weak transcription	Ovary	ovary
26	chr8:9428400-9435400	Weak transcription	Left Ventricle	heart
27	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
28	chr8:9428800-9435000	Weak transcription	Fetal Heart	heart
29	chr8:9429000-9437200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
31	chr8:9429200-9437800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:9430200-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:9430200-9442400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:9430600-9440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:9431000-9434400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:9431000-9440000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:9431800-9434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:9431800-9437400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:9432000-9435000	Weak transcription	NHDF-Ad	bronchial
45	chr8:9432000-9435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:9432000-9444400	Weak transcription	NHEK	skin
47	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain
48	chr8:9432200-9435000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:9432400-9435200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:9432400-9438200	Weak transcription	Osteobl	bone

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