Variant report

Variant	rs56097487
Chromosome Location	chr11:71687541-71687542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71638045..71640447-chr11:71685376..71688245,2	MCF-7	breast:
2	chr11:71687000..71689562-chr11:72144004..72145642,2	K562	blood:
3	chr11:71686454..71690373-chr11:71705743..71708400,3	K562	blood:
4	chr11:71676803..71679636-chr11:71686579..71688460,2	K562	blood:

Variant related genes	Relation type
ENSG00000254469	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10128658	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10736781	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736782	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736786	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751189	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751190	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751193	0.83[EUR][1000 genomes]
rs10793016	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898814	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898817	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12272213	0.83[EUR][1000 genomes]
rs12293885	0.83[EUR][1000 genomes]
rs1541306	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573500	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1573502	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	0.83[EUR][1000 genomes]
rs17161980	0.83[EUR][1000 genomes]
rs1892919	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892921	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894003	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939242	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939243	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939245	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939247	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187496	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2250866	0.83[EUR][1000 genomes]
rs2298456	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2363736	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511074	0.81[ASN][1000 genomes]
rs2511075	0.83[EUR][1000 genomes]
rs2511078	0.83[EUR][1000 genomes]
rs2511079	0.83[EUR][1000 genomes]
rs2511114	0.83[EUR][1000 genomes]
rs2511116	0.83[EUR][1000 genomes]
rs2845857	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885880	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018301	0.86[EUR][1000 genomes]
rs3133230	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133233	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3814721	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3886589	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4121395	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4338555	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4479013	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4491255	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs474231	0.81[EUR][1000 genomes]
rs482013	0.83[EUR][1000 genomes]
rs493065	0.83[EUR][1000 genomes]
rs4943821	0.86[EUR][1000 genomes]
rs4944232	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944242	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944258	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945340	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4945353	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945426	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945435	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs495567	0.86[EUR][1000 genomes]
rs514431	0.81[EUR][1000 genomes]
rs517837	0.83[EUR][1000 genomes]
rs519098	0.81[EUR][1000 genomes]
rs541022	0.83[EUR][1000 genomes]
rs542752	0.83[EUR][1000 genomes]
rs548961	0.81[EUR][1000 genomes]
rs550230	0.81[EUR][1000 genomes]
rs552966	0.84[EUR][1000 genomes]
rs558859	0.81[EUR][1000 genomes]
rs55972015	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560777	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57025151	0.81[EUR][1000 genomes]
rs585228	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs597513	0.83[EUR][1000 genomes]
rs598835	0.83[EUR][1000 genomes]
rs607446	0.83[EUR][1000 genomes]
rs610004	0.83[EUR][1000 genomes]
rs610041	0.83[EUR][1000 genomes]
rs615000	0.83[EUR][1000 genomes]
rs627329	0.83[EUR][1000 genomes]
rs636946	0.83[EUR][1000 genomes]
rs642573	0.83[EUR][1000 genomes]
rs642618	0.86[EUR][1000 genomes]
rs656640	0.83[EUR][1000 genomes]
rs6592448	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592449	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592450	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592451	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592452	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592453	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592455	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592458	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs659513	0.83[EUR][1000 genomes]
rs670802	0.83[EUR][1000 genomes]
rs671681	0.83[EUR][1000 genomes]
rs673478	0.83[EUR][1000 genomes]
rs675185	0.83[EUR][1000 genomes]
rs676721	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs677279	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs678193	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs679926	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7101701	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7102192	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103210	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106748	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7113549	0.81[EUR][1000 genomes]
rs7116495	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121260	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124000	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7127865	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128317	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128346	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128974	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73531952	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539529	0.83[EUR][1000 genomes]
rs73543609	0.83[EUR][1000 genomes]
rs7480015	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7924516	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925901	0.88[ASN][1000 genomes]
rs7930142	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7930544	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7930721	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7930722	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7931941	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937582	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7943227	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7948821	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7949480	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7951194	0.93[ASN][1000 genomes]
rs947932	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949325	0.98[EUR][1000 genomes];0.92[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
rs56097487	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	chr11:71666000-71694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
9	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:71672200-71688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:71672200-71698800	Weak transcription	NHEK	skin
13	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
15	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:71672600-71689400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:71672600-71694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:71672600-71694400	Weak transcription	Aorta	Aorta
20	chr11:71672600-71694600	Weak transcription	Esophagus	oesophagus
21	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
22	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:71672800-71694600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:71673000-71698800	Weak transcription	Ovary	ovary
26	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
27	chr11:71673200-71694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:71673600-71694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:71673800-71688600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:71673800-71690200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:71673800-71690200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:71673800-71694000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:71673800-71698000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:71673800-71698400	Weak transcription	NHLF	lung
37	chr11:71673800-71701200	Weak transcription	Colonic Mucosa	Colon
38	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
40	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
41	chr11:71674200-71697400	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:71675000-71701200	Weak transcription	Fetal Brain Female	brain
43	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:71678000-71710600	Weak transcription	HMEC	breast
46	chr11:71681000-71689200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:71681000-71692600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:71681000-71693200	Weak transcription	Lung	lung
49	chr11:71681000-71698000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:71681200-71690800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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