Variant report

Variant	rs7943227
Chromosome Location	chr11:71670721-71670722
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	chr11:71638912..71641709-chr11:71669595..71671900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10128658	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736781	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736782	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736786	0.83[EUR][1000 genomes]
rs10751189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751190	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898814	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs1541306	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573500	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573502	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1612492	0.81[EUR][1000 genomes]
rs1629046	0.83[EUR][1000 genomes]
rs1629722	0.81[EUR][1000 genomes]
rs1783959	0.83[EUR][1000 genomes]
rs1783960	0.81[EUR][1000 genomes]
rs1783961	0.81[EUR][1000 genomes]
rs1783962	0.81[EUR][1000 genomes]
rs1791449	0.81[EUR][1000 genomes]
rs1791450	0.81[EUR][1000 genomes]
rs1791452	0.81[EUR][1000 genomes]
rs1892919	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892921	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894003	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939242	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939243	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939245	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939247	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187496	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2298456	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363736	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460254	0.81[EUR][1000 genomes]
rs2511099	0.81[EUR][1000 genomes]
rs2845856	0.81[EUR][1000 genomes]
rs2845857	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885880	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3016291	0.81[EUR][1000 genomes]
rs3018301	0.81[EUR][1000 genomes]
rs3814721	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886589	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121395	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338555	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479013	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491255	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs474231	0.86[EUR][1000 genomes]
rs475959	0.83[EUR][1000 genomes]
rs479487	0.81[EUR][1000 genomes]
rs481300	0.81[EUR][1000 genomes]
rs481355	0.81[EUR][1000 genomes]
rs4943821	0.81[EUR][1000 genomes]
rs4944232	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944242	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944258	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945340	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945353	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945426	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945435	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs495567	0.81[EUR][1000 genomes]
rs499386	0.83[EUR][1000 genomes]
rs506395	0.81[EUR][1000 genomes]
rs513292	0.81[EUR][1000 genomes]
rs514431	0.86[EUR][1000 genomes]
rs519098	0.86[EUR][1000 genomes]
rs529522	0.83[EUR][1000 genomes]
rs529567	0.81[EUR][1000 genomes]
rs531326	0.81[EUR][1000 genomes]
rs532433	0.81[EUR][1000 genomes]
rs548127	0.81[EUR][1000 genomes]
rs550230	0.86[EUR][1000 genomes]
rs556089	0.81[EUR][1000 genomes]
rs558859	0.86[EUR][1000 genomes]
rs55972015	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097487	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562414	0.81[EUR][1000 genomes]
rs562469	0.81[EUR][1000 genomes]
rs562621	0.81[EUR][1000 genomes]
rs566965	0.81[EUR][1000 genomes]
rs573227	0.81[EUR][1000 genomes]
rs596130	0.83[EUR][1000 genomes]
rs599611	0.81[EUR][1000 genomes]
rs607319	0.81[EUR][1000 genomes]
rs613140	0.81[EUR][1000 genomes]
rs613535	0.81[EUR][1000 genomes]
rs613971	0.81[EUR][1000 genomes]
rs618186	0.84[EUR][1000 genomes]
rs629714	0.81[EUR][1000 genomes]
rs642618	0.81[EUR][1000 genomes]
rs654780	0.81[EUR][1000 genomes]
rs656990	0.81[EUR][1000 genomes]
rs657819	0.81[EUR][1000 genomes]
rs658699	0.81[EUR][1000 genomes]
rs6592448	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592449	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592450	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592451	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592452	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592455	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592458	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs661242	0.83[EUR][1000 genomes]
rs662649	0.81[EUR][1000 genomes]
rs674688	0.81[EUR][1000 genomes]
rs680150	0.83[EUR][1000 genomes]
rs686205	0.81[EUR][1000 genomes]
rs693648	0.81[EUR][1000 genomes]
rs7101701	0.83[EUR][1000 genomes]
rs7102192	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103210	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106748	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116495	0.83[EUR][1000 genomes]
rs7121260	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7124000	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127865	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128346	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128974	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531952	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7480015	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7924516	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925901	0.90[ASN][1000 genomes]
rs7926533	0.81[EUR][1000 genomes]
rs7930142	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930544	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930721	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930722	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7931941	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937582	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7944073	0.81[EUR][1000 genomes]
rs7948821	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949480	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951194	0.95[ASN][1000 genomes]
rs947932	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949325	0.93[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
rs7943227	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
5	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
7	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
9	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:71641600-71673400	Weak transcription	NHLF	lung
14	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:71642800-71671200	Weak transcription	Dnd41	blood
20	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
21	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:71645800-71671400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:71648800-71671600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:71649200-71670800	Weak transcription	Fetal Stomach	stomach
25	chr11:71649200-71671000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:71651000-71670800	Weak transcription	Placenta	Placenta
27	chr11:71652000-71671200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:71652200-71671200	Weak transcription	Aorta	Aorta
29	chr11:71654200-71671200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:71656000-71670800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:71657000-71670800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:71657800-71671200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:71658800-71671000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:71658800-71671000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:71658800-71677800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:71659000-71671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:71659200-71671600	Weak transcription	NHEK	skin
38	chr11:71659600-71671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:71659800-71671200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:71659800-71671600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:71659800-71671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:71660000-71670800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:71660000-71671000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:71660000-71671000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:71660000-71671400	Weak transcription	Fetal Lung	lung
46	chr11:71660000-71671400	Weak transcription	HSMM	muscle
47	chr11:71660000-71671400	Weak transcription	Osteobl	bone
48	chr11:71660000-71671800	Weak transcription	NH-A	brain
49	chr11:71660000-71672800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:71660200-71670800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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