Variant report

Variant	rs548961
Chromosome Location	chr11:71793887-71793888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71791686..71794615-chr11:71803298..71806095,2	MCF-7	breast:
3	chr11:71792174..71794558-chr11:71812228..71814732,3	MCF-7	breast:
4	chr11:71792007..71794260-chr11:71797315..71799047,2	MCF-7	breast:
5	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
6	chr11:71792886..71794671-chr11:71837571..71840300,2	K562	blood:
7	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
8	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110200	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10128658	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751190	0.83[EUR][1000 genomes]
rs10751193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898814	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272213	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283462	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293885	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541306	0.81[EUR][1000 genomes]
rs1573500	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573502	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161980	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161991	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791544	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806778	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892919	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1892921	0.83[EUR][1000 genomes]
rs1894003	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939242	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939243	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250866	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298456	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511074	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511076	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511078	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511079	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511116	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511121	0.85[ASN][1000 genomes]
rs2511122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845857	0.88[EUR][1000 genomes]
rs28504107	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018304	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][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];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133233	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750908	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793938	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3814721	0.83[EUR][1000 genomes]
rs4338555	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482013	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943821	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944258	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945426	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	0.83[AMR][1000 genomes];0.95[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];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541022	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547208	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552966	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56097487	0.81[EUR][1000 genomes]
rs57025151	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585228	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58991229	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607446	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs615000	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627329	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642573	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642618	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656640	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	0.83[EUR][1000 genomes]
rs6592455	0.83[EUR][1000 genomes]
rs6592458	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[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];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670802	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671681	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673478	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675185	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676721	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677279	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678193	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679926	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101701	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113549	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116188	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116495	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121260	0.83[EUR][1000 genomes]
rs7123102	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124000	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126838	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127865	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128317	0.83[EUR][1000 genomes]
rs7128974	0.83[EUR][1000 genomes]
rs73531952	0.83[EUR][1000 genomes]
rs73539529	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73539532	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543609	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543633	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[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];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937515	0.85[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs7949480	0.83[EUR][1000 genomes]
rs949325	0.83[EUR][1000 genomes];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
rs548961	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71794000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:71792400-71794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:71792400-71796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:71792400-71797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:71792400-71798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:71792400-71799000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:71792400-71799000	Weak transcription	Left Ventricle	heart
8	chr11:71792400-71799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:71792400-71799400	Weak transcription	Ovary	ovary
10	chr11:71792400-71802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
12	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:71792600-71794000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:71792600-71794000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:71792600-71794200	Weak transcription	Fetal Brain Male	brain
16	chr11:71792600-71794400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:71792600-71796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:71792600-71796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:71792600-71796200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:71792600-71796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:71792600-71796200	Weak transcription	Fetal Brain Female	brain
22	chr11:71792600-71796600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:71792600-71796600	Weak transcription	Brain Germinal Matrix	brain
24	chr11:71792600-71796800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:71792600-71796800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:71792600-71796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:71792600-71796800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:71792600-71796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:71792600-71797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:71792600-71797200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:71792600-71799000	Weak transcription	Liver	Liver
32	chr11:71792600-71799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:71792600-71799200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:71792600-71799200	Weak transcription	Osteobl	bone
35	chr11:71792600-71799400	Weak transcription	HSMM	muscle
36	chr11:71792600-71800800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:71792600-71802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:71792600-71802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:71792600-71804200	Weak transcription	Aorta	Aorta
40	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
44	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
46	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
47	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
49	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
50	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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