Variant report

Variant	rs4945435
Chromosome Location	chr11:71759219-71759220
allele	C/T
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
ENSG00000184154	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000263742	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10128658	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10736781	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736782	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736786	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751189	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751190	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751193	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793016	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898814	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898817	0.89[ASN][1000 genomes]
rs11235440	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272213	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12283462	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12293885	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1541306	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573500	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573502	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161966	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161980	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161991	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1791544	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806778	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1892921	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894003	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1939242	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939243	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939245	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939247	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2187496	0.83[ASN][1000 genomes]
rs2250866	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298456	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511074	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511075	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511078	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511079	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511114	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511116	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28504107	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2885880	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3018301	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018304	0.90[ASN][1000 genomes]
rs3018308	0.94[ASN][1000 genomes]
rs3133230	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133233	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750908	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3793938	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3814721	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3886589	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121395	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338555	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479013	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4491255	0.80[ASN][1000 genomes]
rs482013	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs493065	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4943821	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944232	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944242	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944258	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944259	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4945353	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945426	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945434	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495567	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs510925	0.92[ASN][1000 genomes]
rs517837	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs541022	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542752	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs547208	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs548961	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552966	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55972015	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560777	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56097487	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57025151	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585228	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58991229	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs597513	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs598835	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs607446	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs610004	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs610041	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615000	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627329	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs636946	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642573	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656640	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592448	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592449	0.90[EUR][1000 genomes]
rs6592450	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592451	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592452	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592453	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592455	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592458	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592459	0.91[ASN][1000 genomes]
rs659513	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670802	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671681	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs673478	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs675185	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677279	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs678193	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679926	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101701	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102192	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7103210	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106748	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113549	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116188	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116495	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7121260	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123102	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7124000	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126838	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127865	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128317	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128346	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7128974	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73531952	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73539529	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73539532	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543609	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543633	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7480015	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924516	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930142	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930544	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930721	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930722	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931941	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7937515	0.82[ASN][1000 genomes]
rs7937582	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943227	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7948821	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949480	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947932	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949325	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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
rs4945435	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71753200-71759800	Weak transcription	K562	blood
2	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:71753400-71759600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:71753400-71759600	Weak transcription	Left Ventricle	heart
6	chr11:71753400-71759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:71753400-71765800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:71753400-71769800	Weak transcription	Psoas Muscle	Psoas
9	chr11:71753800-71759800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:71753800-71759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:71753800-71759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:71753800-71759800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:71753800-71759800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:71753800-71760000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:71753800-71760200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:71753800-71764600	Weak transcription	HSMM	muscle
17	chr11:71754000-71759600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:71754000-71759600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:71754000-71759600	Weak transcription	Liver	Liver
20	chr11:71754000-71759800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:71754000-71760000	Weak transcription	Right Atrium	heart
22	chr11:71754000-71767200	Weak transcription	Small Intestine	intestine
23	chr11:71754000-71769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:71754000-71769600	Weak transcription	NH-A	brain
25	chr11:71754000-71769600	Weak transcription	NHLF	lung
26	chr11:71754000-71769600	Weak transcription	Osteobl	bone
27	chr11:71754000-71771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:71754000-71772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:71754200-71759400	Weak transcription	HUVEC	blood vessel
30	chr11:71754200-71759600	Weak transcription	Pancreas	Pancrea
31	chr11:71754200-71759600	Weak transcription	Stomach Mucosa	stomach
32	chr11:71754200-71759800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:71754200-71759800	Weak transcription	Primary B cells from cord blood	blood
34	chr11:71754200-71759800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:71754200-71759800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:71754200-71760000	Weak transcription	Spleen	Spleen
37	chr11:71754200-71760000	Weak transcription	A549	lung
38	chr11:71754200-71769400	Weak transcription	HMEC	breast
39	chr11:71754200-71769400	Weak transcription	NHDF-Ad	bronchial
40	chr11:71754200-71769400	Weak transcription	NHEK	skin
41	chr11:71754200-71769600	Weak transcription	HSMMtube	muscle
42	chr11:71754200-71771000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:71754200-71772800	Weak transcription	Lung	lung
44	chr11:71754200-71777400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:71754200-71777600	Weak transcription	Brain Germinal Matrix	brain
46	chr11:71754200-71777600	Weak transcription	Colonic Mucosa	Colon
47	chr11:71754200-71777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
50	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain

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