Variant report

Variant	rs2511075
Chromosome Location	chr11:71780257-71780258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71778482..71780847-chr11:71823918..71825568,2	MCF-7	breast:
2	chr11:71780121..71782648-chr11:72143336..72145276,2	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71779055..71780591-chr11:71811927..71814080,2	K562	blood:
5	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
6	chr11:71761716..71763400-chr11:71778693..71780615,2	MCF-7	breast:
7	chr11:71779732..71781998-chr11:71797035..71799576,2	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10128658	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736786	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10751190	0.85[EUR][1000 genomes]
rs10751193	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793016	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898814	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs11235440	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12272213	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12283462	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12293885	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541306	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1573500	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573502	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161966	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161980	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161991	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791544	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806778	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1892921	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894003	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939242	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939243	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939245	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939247	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250866	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298456	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511074	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511076	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511078	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511079	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511114	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511116	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes]
rs28504107	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3018301	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018304	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018308	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3133230	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133233	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750908	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3793938	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814721	0.85[EUR][1000 genomes]
rs3886589	0.81[EUR][1000 genomes]
rs4121395	0.81[EUR][1000 genomes]
rs4338555	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4479013	0.81[EUR][1000 genomes]
rs482013	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493065	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943821	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944242	0.81[EUR][1000 genomes]
rs4944258	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944259	0.87[ASN][1000 genomes]
rs4945426	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945434	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945435	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs495567	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510925	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs517837	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs541022	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs547208	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs548961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552966	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560777	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56097487	0.83[EUR][1000 genomes]
rs57025151	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs585228	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58991229	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597513	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598835	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs607446	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610004	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610041	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615000	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627329	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636946	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642573	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642618	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592448	0.81[EUR][1000 genomes]
rs6592449	0.81[EUR][1000 genomes]
rs6592451	0.81[EUR][1000 genomes]
rs6592453	0.85[EUR][1000 genomes]
rs6592455	0.85[EUR][1000 genomes]
rs6592458	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592459	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs659513	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670802	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671681	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673478	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675185	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676721	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677279	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678193	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs679926	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7101701	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113549	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7116188	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7116495	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7121260	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7123102	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7124000	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126838	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7127865	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7128317	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7128974	0.85[EUR][1000 genomes]
rs73531952	0.85[EUR][1000 genomes]
rs73539529	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73539532	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73543609	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73543633	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7480015	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7924516	0.81[EUR][1000 genomes]
rs7930142	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930544	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930721	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930722	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937515	0.83[ASN][1000 genomes]
rs7937582	0.88[ASN][1000 genomes]
rs7949480	0.85[EUR][1000 genomes]
rs947932	0.81[EUR][1000 genomes]
rs949325	0.85[EUR][1000 genomes];0.86[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
rs2511075	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	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
2	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
3	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart
10	chr11:71760400-71780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:71760400-71780400	Weak transcription	Liver	Liver
12	chr11:71760400-71780400	Weak transcription	Ovary	ovary
13	chr11:71760400-71780600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:71760600-71780400	Weak transcription	Gastric	stomach
15	chr11:71760600-71780800	Weak transcription	Spleen	Spleen
16	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:71768000-71780400	Weak transcription	Small Intestine	intestine
18	chr11:71769200-71780400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:71770000-71780400	Weak transcription	Right Ventricle	heart
20	chr11:71770000-71783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:71770600-71781000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:71771400-71780600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
24	chr11:71773200-71783200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:71773600-71780400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:71773600-71783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:71774600-71780400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:71776600-71783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:71776800-71780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:71776800-71781600	Strong transcription	Dnd41	blood
31	chr11:71777000-71780400	Strong transcription	Fetal Thymus	thymus
32	chr11:71777400-71780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:71777400-71780400	Enhancers	HUVEC	blood vessel
34	chr11:71777400-71783000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:71778000-71780400	Weak transcription	Right Atrium	heart
36	chr11:71778200-71780400	Enhancers	Colon Smooth Muscle	Colon
37	chr11:71778200-71780400	Weak transcription	Pancreas	Pancrea
38	chr11:71778400-71780400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:71778400-71780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
41	chr11:71778600-71780400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:71778800-71780400	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:71778800-71780400	Weak transcription	Fetal Kidney	kidney
44	chr11:71778800-71780400	Weak transcription	Placenta	Placenta
45	chr11:71778800-71780400	Weak transcription	Stomach Mucosa	stomach
46	chr11:71778800-71780600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:71779000-71780400	Weak transcription	Brain Substantia Nigra	brain
48	chr11:71779000-71780400	Strong transcription	HepG2	liver
49	chr11:71779000-71780400	Enhancers	NHLF	lung
50	chr11:71779000-71780600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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