Variant report

Variant	rs10751192
Chromosome Location	chr11:71681153-71681154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10450664	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10501408	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736780	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751188	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751191	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793011	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793013	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793014	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793015	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235441	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235444	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12272086	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12275171	0.81[ASN][1000 genomes]
rs12293195	0.89[EUR][1000 genomes]
rs1541304	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548348	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573501	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573503	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161751	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791456	0.88[ASN][1000 genomes]
rs1892920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894004	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939241	0.81[AMR][1000 genomes]
rs2155142	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155145	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155146	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276384	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276396	0.81[ASN][1000 genomes]
rs2503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508856	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508860	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511120	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2735787	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2845860	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852365	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885661	0.82[ASN][1000 genomes]
rs3018310	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3750907	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3829215	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245463	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4269951	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4378421	0.88[ASN][1000 genomes]
rs4387373	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4399349	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4412771	0.86[ASN][1000 genomes]
rs4477459	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482197	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs488829	0.88[ASN][1000 genomes]
rs492135	0.90[ASN][1000 genomes]
rs4944243	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945382	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945391	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4945392	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498770	0.82[ASN][1000 genomes]
rs518959	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs538569	0.87[ASN][1000 genomes]
rs542097	0.88[ASN][1000 genomes]
rs56255748	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564294	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567026	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567851	0.88[ASN][1000 genomes]
rs575831	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs577435	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58417942	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs592051	0.84[ASN][1000 genomes]
rs595062	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60054591	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs612255	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs620945	0.81[ASN][1000 genomes]
rs628025	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs645603	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592447	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592457	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs661290	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs671132	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs674319	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs686340	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7101553	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102693	0.82[ASN][1000 genomes]
rs7106653	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106730	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111379	0.89[EUR][1000 genomes]
rs7113436	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113520	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115513	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121080	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126394	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73531955	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543612	0.86[ASN][1000 genomes]
rs73543635	0.89[EUR][1000 genomes]
rs73543640	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73543643	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924834	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937408	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7938496	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7942626	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951564	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs949323	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949326	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9666346	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9735988	0.89[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10751192	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660400-71701200	Weak transcription	Gastric	stomach
2	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
3	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
4	chr11:71661400-71687600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:71663000-71689400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:71665800-71683400	Weak transcription	Psoas Muscle	Psoas
8	chr11:71666000-71694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
10	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71670200-71686800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:71672200-71688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:71672200-71698800	Weak transcription	NHEK	skin
15	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
17	chr11:71672400-71682800	Weak transcription	HSMMtube	muscle
18	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:71672600-71689400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:71672600-71694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:71672600-71694400	Weak transcription	Aorta	Aorta
23	chr11:71672600-71694600	Weak transcription	Esophagus	oesophagus
24	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
25	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:71672800-71694600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:71673000-71683600	Weak transcription	Thymus	Thymus
28	chr11:71673000-71685800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:71673000-71685800	Weak transcription	Left Ventricle	heart
30	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:71673000-71698800	Weak transcription	Ovary	ovary
32	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
33	chr11:71673200-71694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:71673600-71694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:71673800-71688600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:71673800-71690200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:71673800-71690200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:71673800-71694000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:71673800-71698000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:71673800-71698400	Weak transcription	NHLF	lung
43	chr11:71673800-71701200	Weak transcription	Colonic Mucosa	Colon
44	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
46	chr11:71674000-71682600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:71674000-71684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:71674000-71685600	Weak transcription	Primary B cells from cord blood	blood
49	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
50	chr11:71674200-71697400	Weak transcription	Colon Smooth Muscle	Colon

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