Variant report

Variant	rs13276750
Chromosome Location	chr8:9474209-9474210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10087012	0.81[EUR][1000 genomes]
rs10087166	0.80[EUR][1000 genomes]
rs10087749	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10088037	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10088039	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10088401	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097438	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10101953	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10102030	0.83[EUR][1000 genomes]
rs10103752	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112051	0.84[ASN][1000 genomes]
rs10112600	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10112821	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10464998	0.85[EUR][1000 genomes]
rs10465002	0.85[EUR][1000 genomes]
rs10794712	0.86[EUR][1000 genomes]
rs10903314	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10903315	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10903318	0.81[EUR][1000 genomes]
rs11249931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249932	0.85[EUR][1000 genomes]
rs11249938	0.84[EUR][1000 genomes]
rs11249941	0.84[EUR][1000 genomes]
rs11249942	0.85[EUR][1000 genomes]
rs11779335	0.84[EUR][1000 genomes]
rs11783635	0.84[EUR][1000 genomes]
rs11785927	0.84[EUR][1000 genomes]
rs11785987	0.84[EUR][1000 genomes]
rs11984585	0.82[EUR][1000 genomes]
rs11993506	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994420	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12335063	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545912	0.81[EUR][1000 genomes]
rs12548306	0.80[EUR][1000 genomes]
rs12674762	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676827	0.85[EUR][1000 genomes]
rs12679892	0.86[ASN][1000 genomes]
rs12680098	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681719	0.81[EUR][1000 genomes]
rs12682247	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13249683	0.82[EUR][1000 genomes]
rs13262577	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269437	0.86[EUR][1000 genomes]
rs13273033	0.86[EUR][1000 genomes]
rs13276965	0.85[EUR][1000 genomes]
rs28374482	0.82[ASN][1000 genomes]
rs28561748	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28693007	0.83[ASN][1000 genomes]
rs28695930	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28716261	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35159871	0.84[EUR][1000 genomes]
rs4128199	0.81[ASN][1000 genomes]
rs4240626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240629	0.86[EUR][1000 genomes]
rs4240632	0.86[EUR][1000 genomes]
rs4282575	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4305907	0.85[EUR][1000 genomes]
rs4310210	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4320547	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372006	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4398920	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4407883	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4418340	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4419813	0.85[EUR][1000 genomes]
rs4464970	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4483157	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4493905	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4510870	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4535744	0.84[EUR][1000 genomes]
rs4568626	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4576424	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4579533	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4582568	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4582569	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4621810	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4626603	0.84[EUR][1000 genomes]
rs4626604	0.84[EUR][1000 genomes]
rs4840427	0.81[ASN][1000 genomes]
rs4840428	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4840431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841173	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841174	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841175	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841179	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841197	0.86[EUR][1000 genomes]
rs4841202	0.85[EUR][1000 genomes]
rs4841206	0.85[EUR][1000 genomes]
rs4841209	0.85[EUR][1000 genomes]
rs4841210	0.85[EUR][1000 genomes]
rs4841212	0.83[EUR][1000 genomes]
rs55917145	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59775058	0.88[ASN][1000 genomes]
rs61176710	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601337	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6601339	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601348	0.83[EUR][1000 genomes]
rs6601361	0.85[EUR][1000 genomes]
rs6651495	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6651496	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6651501	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6651502	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67480155	0.81[EUR][1000 genomes]
rs6981831	0.87[EUR][1000 genomes]
rs6983608	0.85[EUR][1000 genomes]
rs6983762	0.85[EUR][1000 genomes]
rs6986929	0.85[EUR][1000 genomes]
rs6987698	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989126	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6990590	0.81[EUR][1000 genomes]
rs6990779	0.85[EUR][1000 genomes]
rs6994557	0.86[EUR][1000 genomes]
rs6996976	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006785	0.84[EUR][1000 genomes]
rs7010270	0.85[EUR][1000 genomes]
rs7013500	0.81[EUR][1000 genomes]
rs7015787	0.83[EUR][1000 genomes]
rs7015963	0.84[EUR][1000 genomes]
rs7016561	0.84[EUR][1000 genomes]
rs7016839	0.84[EUR][1000 genomes]
rs7461376	0.85[EUR][1000 genomes]
rs7462054	0.85[EUR][1000 genomes]
rs7462055	0.86[EUR][1000 genomes]
rs7462102	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7462115	0.86[EUR][1000 genomes]
rs7462910	0.85[EUR][1000 genomes]
rs7464185	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7464226	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7465249	0.85[EUR][1000 genomes]
rs7814014	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815817	0.81[ASN][1000 genomes]
rs7822548	0.86[EUR][1000 genomes]
rs7822904	0.85[EUR][1000 genomes]
rs7832096	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7834823	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7837815	0.85[EUR][1000 genomes]
rs7844450	0.82[EUR][1000 genomes]
rs9650638	0.92[EUR][1000 genomes];0.84[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:73 , 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	chr8:9463000-9479800	Weak transcription	Dnd41	blood
4	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:9466400-9479800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:9466400-9483200	Weak transcription	Liver	Liver
9	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:9468800-9474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:9468800-9476600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:9469000-9476600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:9470400-9474600	Enhancers	Fetal Heart	heart
16	chr8:9470400-9475000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:9470600-9474600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:9470800-9476200	Weak transcription	Placenta	Placenta
19	chr8:9470800-9476800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:9471000-9479800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:9471000-9487000	Weak transcription	HepG2	liver
22	chr8:9471800-9475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:9472000-9476200	Weak transcription	HMEC	breast
24	chr8:9472200-9474600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:9472200-9475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:9472400-9479000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:9472400-9479800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:9472400-9483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:9472800-9474600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:9472800-9474600	Enhancers	Brain Anterior Caudate	brain
31	chr8:9472800-9475400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:9472800-9479000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:9472800-9479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:9472800-9481200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:9472800-9484600	Weak transcription	Small Intestine	intestine
36	chr8:9473000-9476600	Weak transcription	Brain Substantia Nigra	brain
37	chr8:9473000-9477400	Weak transcription	NH-A	brain
38	chr8:9473200-9475600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:9473200-9475600	Weak transcription	Left Ventricle	heart
40	chr8:9473200-9476400	Weak transcription	Brain Angular Gyrus	brain
41	chr8:9473200-9476600	Weak transcription	Right Ventricle	heart
42	chr8:9473200-9476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:9473200-9477800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:9473200-9477800	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:9473200-9478000	Weak transcription	Psoas Muscle	Psoas
46	chr8:9473200-9478000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:9473200-9479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:9473200-9483800	Weak transcription	NHDF-Ad	bronchial
49	chr8:9473200-9484600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:9473200-9486000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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