Variant report

Variant	rs4479013
Chromosome Location	chr11:71673732-71673733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71657120..71658875-chr11:71672384..71674334,2	K562	blood:
2	chr11:71668009..71670469-chr11:71671674..71674136,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 204 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10128658	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736781	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736782	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736786	0.85[EUR][1000 genomes]
rs10751189	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751193	0.81[EUR][1000 genomes]
rs10793016	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898814	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs12272213	0.81[EUR][1000 genomes]
rs12293885	0.81[EUR][1000 genomes]
rs1541306	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573500	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573502	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1612492	0.83[EUR][1000 genomes]
rs1629046	0.85[EUR][1000 genomes]
rs1629722	0.83[EUR][1000 genomes]
rs17161966	0.81[EUR][1000 genomes]
rs17161980	0.81[EUR][1000 genomes]
rs1783959	0.85[EUR][1000 genomes]
rs1783960	0.83[EUR][1000 genomes]
rs1783961	0.83[EUR][1000 genomes]
rs1783962	0.83[EUR][1000 genomes]
rs1791449	0.83[EUR][1000 genomes]
rs1791450	0.83[EUR][1000 genomes]
rs1791452	0.83[EUR][1000 genomes]
rs1892919	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892921	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894003	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939242	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939243	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939245	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939247	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939248	0.80[EUR][1000 genomes]
rs2187496	1.00[ASN][1000 genomes]
rs2250866	0.81[EUR][1000 genomes]
rs2298456	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363736	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460252	0.80[EUR][1000 genomes]
rs2460253	0.80[EUR][1000 genomes]
rs2460254	0.83[EUR][1000 genomes]
rs2508578	0.80[EUR][1000 genomes]
rs2511075	0.81[EUR][1000 genomes]
rs2511078	0.81[EUR][1000 genomes]
rs2511079	0.81[EUR][1000 genomes]
rs2511097	0.80[EUR][1000 genomes]
rs2511098	0.80[EUR][1000 genomes]
rs2511099	0.83[EUR][1000 genomes]
rs2511114	0.81[EUR][1000 genomes]
rs2511116	0.81[EUR][1000 genomes]
rs2845856	0.83[EUR][1000 genomes]
rs2845857	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885880	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945921	0.80[EUR][1000 genomes]
rs3016289	0.80[EUR][1000 genomes]
rs3016291	0.83[EUR][1000 genomes]
rs3133230	0.81[EUR][1000 genomes]
rs3133233	0.81[EUR][1000 genomes]
rs3814721	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886589	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338555	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4491255	0.94[ASN][1000 genomes]
rs474231	0.88[EUR][1000 genomes]
rs475959	0.85[EUR][1000 genomes]
rs479487	0.83[EUR][1000 genomes]
rs481300	0.83[EUR][1000 genomes]
rs481355	0.83[EUR][1000 genomes]
rs482013	0.81[EUR][1000 genomes]
rs482413	0.80[EUR][1000 genomes]
rs493065	0.81[EUR][1000 genomes]
rs4944232	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944242	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944258	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944259	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4945340	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945353	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945426	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945435	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499386	0.85[EUR][1000 genomes]
rs506395	0.83[EUR][1000 genomes]
rs513292	0.83[EUR][1000 genomes]
rs514431	0.88[EUR][1000 genomes]
rs515358	0.80[EUR][1000 genomes]
rs517837	0.81[EUR][1000 genomes]
rs518830	0.80[EUR][1000 genomes]
rs519098	0.88[EUR][1000 genomes]
rs520025	0.80[EUR][1000 genomes]
rs528942	0.80[EUR][1000 genomes]
rs529522	0.85[EUR][1000 genomes]
rs529567	0.83[EUR][1000 genomes]
rs531326	0.83[EUR][1000 genomes]
rs532433	0.83[EUR][1000 genomes]
rs541022	0.81[EUR][1000 genomes]
rs542752	0.81[EUR][1000 genomes]
rs548127	0.83[EUR][1000 genomes]
rs550230	0.88[EUR][1000 genomes]
rs556089	0.83[EUR][1000 genomes]
rs558859	0.88[EUR][1000 genomes]
rs55972015	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	0.81[EUR][1000 genomes]
rs56097487	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562414	0.83[EUR][1000 genomes]
rs562469	0.83[EUR][1000 genomes]
rs562621	0.83[EUR][1000 genomes]
rs564170	0.80[EUR][1000 genomes]
rs566965	0.83[EUR][1000 genomes]
rs573137	0.81[EUR][1000 genomes]
rs573227	0.83[EUR][1000 genomes]
rs585228	0.81[EUR][1000 genomes]
rs596130	0.85[EUR][1000 genomes]
rs596629	0.80[EUR][1000 genomes]
rs597513	0.81[EUR][1000 genomes]
rs598835	0.81[EUR][1000 genomes]
rs599611	0.83[EUR][1000 genomes]
rs601865	0.80[EUR][1000 genomes]
rs603680	0.80[EUR][1000 genomes]
rs604671	0.80[EUR][1000 genomes]
rs607319	0.83[EUR][1000 genomes]
rs607446	0.81[EUR][1000 genomes]
rs609181	0.80[EUR][1000 genomes]
rs610004	0.81[EUR][1000 genomes]
rs610041	0.81[EUR][1000 genomes]
rs613140	0.83[EUR][1000 genomes]
rs613535	0.83[EUR][1000 genomes]
rs613971	0.83[EUR][1000 genomes]
rs615000	0.81[EUR][1000 genomes]
rs618186	0.86[EUR][1000 genomes]
rs627329	0.81[EUR][1000 genomes]
rs629714	0.83[EUR][1000 genomes]
rs636946	0.81[EUR][1000 genomes]
rs642573	0.81[EUR][1000 genomes]
rs650542	0.80[EUR][1000 genomes]
rs654780	0.83[EUR][1000 genomes]
rs656640	0.81[EUR][1000 genomes]
rs656990	0.83[EUR][1000 genomes]
rs657819	0.83[EUR][1000 genomes]
rs658661	0.80[EUR][1000 genomes]
rs658699	0.83[EUR][1000 genomes]
rs6592448	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592449	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592450	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592452	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592455	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592458	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs659513	0.81[EUR][1000 genomes]
rs661242	0.85[EUR][1000 genomes]
rs662649	0.83[EUR][1000 genomes]
rs670802	0.81[EUR][1000 genomes]
rs671072	0.80[EUR][1000 genomes]
rs671394	0.80[EUR][1000 genomes]
rs671681	0.81[EUR][1000 genomes]
rs672424	0.80[EUR][1000 genomes]
rs672533	0.80[EUR][1000 genomes]
rs673478	0.81[EUR][1000 genomes]
rs674688	0.83[EUR][1000 genomes]
rs674735	0.80[EUR][1000 genomes]
rs675156	0.80[EUR][1000 genomes]
rs675185	0.81[EUR][1000 genomes]
rs676721	0.81[EUR][1000 genomes]
rs677279	0.81[EUR][1000 genomes]
rs678193	0.81[EUR][1000 genomes]
rs679926	0.81[EUR][1000 genomes]
rs680150	0.85[EUR][1000 genomes]
rs686205	0.83[EUR][1000 genomes]
rs692940	0.80[EUR][1000 genomes]
rs693648	0.83[EUR][1000 genomes]
rs7101701	0.85[EUR][1000 genomes]
rs7102192	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103210	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106748	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116495	0.85[EUR][1000 genomes]
rs7121260	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7124000	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127865	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128346	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531952	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73539529	0.81[EUR][1000 genomes]
rs73543609	0.81[EUR][1000 genomes]
rs7480015	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7924516	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925901	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7926533	0.83[EUR][1000 genomes]
rs7930142	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930544	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930721	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930722	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7931941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937582	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943227	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944073	0.83[EUR][1000 genomes]
rs7948821	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949480	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951194	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs947932	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949325	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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
rs4479013	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71658800-71677800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:71660400-71701200	Weak transcription	Gastric	stomach
3	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
4	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
5	chr11:71661400-71687600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:71663000-71689400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:71665800-71683400	Weak transcription	Psoas Muscle	Psoas
9	chr11:71666000-71694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
11	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:71670000-71674000	Strong transcription	Primary T cells from cord blood	blood
13	chr11:71670200-71686800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71670600-71673800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:71670800-71673800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:71670800-71673800	Strong transcription	Adipose Nuclei	Adipose
18	chr11:71670800-71674000	Strong transcription	Placenta	Placenta
19	chr11:71670800-71674200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:71671000-71673800	Strong transcription	Brain Anterior Caudate	brain
21	chr11:71671000-71673800	Strong transcription	Fetal Thymus	thymus
22	chr11:71671000-71675000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:71671000-71676600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:71671000-71677600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:71671200-71673800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:71671200-71673800	Strong transcription	Liver	Liver
27	chr11:71671200-71674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:71671200-71674200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:71671200-71674200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:71671200-71674800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:71671200-71675400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:71671400-71673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:71671400-71673800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:71671400-71673800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:71671400-71673800	Strong transcription	Brain Angular Gyrus	brain
36	chr11:71671400-71674000	Strong transcription	Fetal Lung	lung
37	chr11:71671400-71675200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:71671400-71675800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:71671600-71673800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:71671600-71673800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr11:71671600-71674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:71671600-71674000	Strong transcription	Brain Germinal Matrix	brain
43	chr11:71671600-71674400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr11:71672000-71677200	Weak transcription	Lung	lung
45	chr11:71672200-71676600	Strong transcription	Dnd41	blood
46	chr11:71672200-71679200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:71672200-71688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:71672200-71698800	Weak transcription	NHEK	skin
49	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain

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