Variant report

Variant	rs2511122
Chromosome Location	chr11:71786036-71786037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71779806..71783480-chr11:71784748..71787968,4	MCF-7	breast:
3	chr11:71785228..71787709-chr11:71818324..71820591,2	K562	blood:
4	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
5	chr11:71783566..71785134-chr11:71785385..71786915,2	K562	blood:

Variant related genes	Relation type
ENSG00000212089	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10128658	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898814	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272213	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283462	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293885	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573500	0.85[ASN][1000 genomes]
rs1573502	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161980	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161991	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791544	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806778	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892919	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894003	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1939242	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939243	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2250866	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298456	0.85[ASN][1000 genomes]
rs2511074	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511076	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511078	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511079	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511116	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511121	0.85[ASN][1000 genomes]
rs2845857	0.82[EUR][1000 genomes]
rs28504107	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3018301	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018304	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3018308	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3133230	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133233	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750908	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793938	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4338555	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482013	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943821	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944258	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945426	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510925	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs517837	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541022	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547208	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs548961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552966	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57025151	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585228	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58991229	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607446	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs615000	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627329	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642573	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656640	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592452	0.80[EUR][1000 genomes]
rs6592458	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592459	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs659513	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670802	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671681	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673478	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675185	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676721	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677279	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678193	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679926	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101701	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113549	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116188	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116495	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123102	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124000	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126838	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127865	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73539529	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73539532	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543609	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543633	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7480015	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7930142	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7937515	0.85[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs949325	0.85[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
rs2511122	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
4	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
7	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
9	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:71781600-71789400	Weak transcription	Liver	Liver
11	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
14	chr11:71782000-71786200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:71782000-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
18	chr11:71782000-71790200	Weak transcription	Ovary	ovary
19	chr11:71782200-71786200	Weak transcription	K562	blood
20	chr11:71783200-71789000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:71783400-71786200	Weak transcription	Brain Substantia Nigra	brain
22	chr11:71783400-71787800	Weak transcription	Primary B cells from cord blood	blood
23	chr11:71783400-71790000	Weak transcription	Psoas Muscle	Psoas
24	chr11:71783600-71786200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:71783600-71786200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:71783600-71786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:71783600-71786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:71783600-71786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:71783600-71786400	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:71783600-71786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:71783600-71789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:71783600-71789400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:71783600-71789400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:71783600-71789600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:71783600-71789800	Weak transcription	Pancreas	Pancrea
36	chr11:71783600-71790200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:71783600-71790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:71783600-71790800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:71783600-71790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:71783800-71786200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:71783800-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:71783800-71786200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:71783800-71786400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:71783800-71786400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:71783800-71786400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:71783800-71786400	Weak transcription	Adipose Nuclei	Adipose
47	chr11:71783800-71786400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:71783800-71787800	Strong transcription	Fetal Stomach	stomach
49	chr11:71783800-71788400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:71783800-71789000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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