Variant report

Variant	rs7480015
Chromosome Location	chr11:71746141-71746142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

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

Extended variants
information (count: 148 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10128658	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10736781	0.86[ASN][1000 genomes]
rs10736782	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10751189	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10751190	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10751193	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10793016	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898817	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11235440	0.83[ASN][1000 genomes]
rs12272213	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12283462	0.83[ASN][1000 genomes]
rs12293885	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1541306	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573500	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573502	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161966	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17161980	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17161991	0.83[ASN][1000 genomes]
rs1791544	0.84[ASN][1000 genomes]
rs1806778	0.83[ASN][1000 genomes]
rs1892919	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892921	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894003	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939242	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187496	0.86[ASN][1000 genomes]
rs2250866	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2298456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298457	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2363736	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511074	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2511075	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2511076	0.84[ASN][1000 genomes]
rs2511078	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2511079	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2511114	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2511116	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2511122	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2845857	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28504107	0.82[ASN][1000 genomes]
rs2885880	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018301	0.84[ASN][1000 genomes]
rs3018304	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3018308	0.86[ASN][1000 genomes]
rs3133230	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3133233	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3750908	0.83[ASN][1000 genomes]
rs3793938	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3814721	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886589	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4121395	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4338555	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4479013	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4491255	0.83[ASN][1000 genomes]
rs482013	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs493065	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4943821	0.85[ASN][1000 genomes]
rs4944232	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944242	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944259	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945353	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4945426	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945434	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	0.84[ASN][1000 genomes]
rs510925	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs517837	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs541022	0.86[ASN][1000 genomes]
rs542752	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs547208	0.80[ASN][1000 genomes]
rs548961	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs552966	0.84[ASN][1000 genomes]
rs55972015	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs560777	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56097487	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57025151	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs585228	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58991229	0.81[ASN][1000 genomes]
rs597513	0.82[ASN][1000 genomes]
rs598835	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs607446	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs610004	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs610041	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs615000	0.81[ASN][1000 genomes]
rs627329	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs636946	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs642573	0.86[ASN][1000 genomes]
rs642618	0.84[ASN][1000 genomes]
rs656640	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6592448	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592449	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6592450	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592451	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592452	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6592453	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592455	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592458	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592459	0.83[ASN][1000 genomes]
rs659513	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs670802	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs671681	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs673478	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs675185	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs676721	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs677279	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs678193	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs679926	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7101701	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7102192	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7103210	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7106748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113549	0.83[ASN][1000 genomes]
rs7116188	0.83[ASN][1000 genomes]
rs7116495	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121260	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7123102	0.83[ASN][1000 genomes]
rs7124000	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126838	0.83[ASN][1000 genomes]
rs7127865	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128317	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128346	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128974	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73531952	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73539529	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73539532	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73543609	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73543633	0.83[ASN][1000 genomes]
rs7924516	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7925901	0.88[AMR][1000 genomes]
rs7930142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7930544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7930721	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7930722	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931941	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937582	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943227	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7948821	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949480	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7951194	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs947932	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs949325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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
rs7480015	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:71711000-71748800	Strong transcription	Dnd41	blood
4	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
5	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:71725600-71747400	Strong transcription	Thymus	Thymus
7	chr11:71727800-71750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:71730600-71748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:71735400-71750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:71735800-71750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71736400-71747200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:71736400-71748000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:71736600-71747800	Strong transcription	Primary B cells from cord blood	blood
14	chr11:71736600-71748000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:71737400-71747000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:71737400-71748000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:71737600-71747200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:71737600-71747200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:71737800-71747600	Strong transcription	Placenta	Placenta
20	chr11:71738000-71748200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:71738200-71747200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:71738400-71747200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:71738600-71749600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:71739400-71747600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:71740200-71747400	Weak transcription	Fetal Heart	heart
26	chr11:71740400-71746800	Weak transcription	Aorta	Aorta
27	chr11:71740400-71747800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:71740400-71748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:71740400-71750000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:71740400-71750400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:71740600-71746800	Weak transcription	Fetal Brain Male	brain
32	chr11:71740600-71747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:71740600-71747800	Weak transcription	Esophagus	oesophagus
34	chr11:71740800-71747200	Weak transcription	Stomach Mucosa	stomach
35	chr11:71741400-71747600	Strong transcription	Osteobl	bone
36	chr11:71741600-71747800	Strong transcription	GM12878-XiMat	blood
37	chr11:71741800-71746400	Strong transcription	HSMM	muscle
38	chr11:71742000-71747200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:71742000-71747600	Weak transcription	Psoas Muscle	Psoas
40	chr11:71742200-71746600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:71742200-71746800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:71742200-71746800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:71742200-71747000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:71742200-71747400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:71742200-71747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:71742200-71747600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:71742400-71747600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:71742800-71746800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:71742800-71747000	Strong transcription	Fetal Stomach	stomach
50	chr11:71742800-71747200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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