Variant report

Variant	rs7106748
Chromosome Location	chr11:71645803-71645804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71644522..71646628-chr11:71653948..71656589,2	MCF-7	breast:
2	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:
3	chr11:71642632..71644871-chr11:71645034..71646537,2	K562	blood:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10128658	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736781	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736782	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736786	0.81[EUR][1000 genomes]
rs10751189	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751190	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898814	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs12291678	0.83[EUR][1000 genomes]
rs1541306	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573500	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573502	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1612492	0.88[EUR][1000 genomes]
rs1629046	0.90[EUR][1000 genomes]
rs1629722	0.88[EUR][1000 genomes]
rs1783959	0.90[EUR][1000 genomes]
rs1783960	0.88[EUR][1000 genomes]
rs1783961	0.88[EUR][1000 genomes]
rs1783962	0.88[EUR][1000 genomes]
rs1791449	0.88[EUR][1000 genomes]
rs1791450	0.88[EUR][1000 genomes]
rs1791451	0.83[EUR][1000 genomes]
rs1791452	0.88[EUR][1000 genomes]
rs1892919	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892921	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894003	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939242	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939243	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939245	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939247	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939248	0.85[EUR][1000 genomes]
rs2187496	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2298456	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363736	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460252	0.85[EUR][1000 genomes]
rs2460253	0.85[EUR][1000 genomes]
rs2460254	0.88[EUR][1000 genomes]
rs2508578	0.85[EUR][1000 genomes]
rs2511097	0.85[EUR][1000 genomes]
rs2511098	0.85[EUR][1000 genomes]
rs2511099	0.88[EUR][1000 genomes]
rs2845856	0.88[EUR][1000 genomes]
rs2845857	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885880	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945921	0.85[EUR][1000 genomes]
rs3016288	0.83[EUR][1000 genomes]
rs3016289	0.85[EUR][1000 genomes]
rs3016291	0.88[EUR][1000 genomes]
rs34390540	0.83[EUR][1000 genomes]
rs3814721	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886589	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121395	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338555	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479013	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491255	0.94[ASN][1000 genomes]
rs474231	0.93[EUR][1000 genomes]
rs475759	0.82[EUR][1000 genomes]
rs475959	0.90[EUR][1000 genomes]
rs479487	0.88[EUR][1000 genomes]
rs481300	0.88[EUR][1000 genomes]
rs481355	0.88[EUR][1000 genomes]
rs482413	0.85[EUR][1000 genomes]
rs4944232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944242	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944258	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945340	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945426	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945435	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs497867	0.83[EUR][1000 genomes]
rs499386	0.90[EUR][1000 genomes]
rs506395	0.88[EUR][1000 genomes]
rs513292	0.87[EUR][1000 genomes]
rs514431	0.93[EUR][1000 genomes]
rs515358	0.85[EUR][1000 genomes]
rs518830	0.85[EUR][1000 genomes]
rs519098	0.93[EUR][1000 genomes]
rs520025	0.85[EUR][1000 genomes]
rs528942	0.85[EUR][1000 genomes]
rs529522	0.90[EUR][1000 genomes]
rs529567	0.88[EUR][1000 genomes]
rs531326	0.88[EUR][1000 genomes]
rs532433	0.88[EUR][1000 genomes]
rs548127	0.88[EUR][1000 genomes]
rs550230	0.93[EUR][1000 genomes]
rs556089	0.88[EUR][1000 genomes]
rs558859	0.93[EUR][1000 genomes]
rs55972015	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560626	0.83[EUR][1000 genomes]
rs56097487	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562414	0.88[EUR][1000 genomes]
rs562469	0.88[EUR][1000 genomes]
rs562621	0.88[EUR][1000 genomes]
rs564170	0.85[EUR][1000 genomes]
rs566965	0.88[EUR][1000 genomes]
rs573137	0.86[EUR][1000 genomes]
rs573227	0.88[EUR][1000 genomes]
rs579254	0.83[EUR][1000 genomes]
rs59339387	0.83[EUR][1000 genomes]
rs596130	0.90[EUR][1000 genomes]
rs596629	0.85[EUR][1000 genomes]
rs599611	0.88[EUR][1000 genomes]
rs601865	0.85[EUR][1000 genomes]
rs603680	0.85[EUR][1000 genomes]
rs604671	0.85[EUR][1000 genomes]
rs607319	0.88[EUR][1000 genomes]
rs609181	0.85[EUR][1000 genomes]
rs609492	0.83[EUR][1000 genomes]
rs613140	0.88[EUR][1000 genomes]
rs613535	0.88[EUR][1000 genomes]
rs613971	0.88[EUR][1000 genomes]
rs618186	0.90[EUR][1000 genomes]
rs629714	0.88[EUR][1000 genomes]
rs633448	0.83[EUR][1000 genomes]
rs634829	0.83[EUR][1000 genomes]
rs635442	0.83[EUR][1000 genomes]
rs635701	0.83[EUR][1000 genomes]
rs636184	0.83[EUR][1000 genomes]
rs650542	0.85[EUR][1000 genomes]
rs654780	0.88[EUR][1000 genomes]
rs656990	0.88[EUR][1000 genomes]
rs657819	0.87[EUR][1000 genomes]
rs658661	0.85[EUR][1000 genomes]
rs658699	0.88[EUR][1000 genomes]
rs6592448	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592449	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592450	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592451	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592452	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592455	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592458	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs661242	0.90[EUR][1000 genomes]
rs662649	0.88[EUR][1000 genomes]
rs669835	0.81[EUR][1000 genomes]
rs671072	0.85[EUR][1000 genomes]
rs671394	0.85[EUR][1000 genomes]
rs672424	0.85[EUR][1000 genomes]
rs672533	0.85[EUR][1000 genomes]
rs674688	0.88[EUR][1000 genomes]
rs674735	0.85[EUR][1000 genomes]
rs675156	0.85[EUR][1000 genomes]
rs680150	0.90[EUR][1000 genomes]
rs686205	0.88[EUR][1000 genomes]
rs692940	0.85[EUR][1000 genomes]
rs693648	0.88[EUR][1000 genomes]
rs7101701	0.81[EUR][1000 genomes]
rs7102192	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103210	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116495	0.81[EUR][1000 genomes]
rs7121260	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7124000	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127865	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128346	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128974	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531952	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7480015	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7924516	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925901	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7926533	0.88[EUR][1000 genomes]
rs7930142	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930544	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930721	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930722	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7931941	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937582	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943227	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944073	0.88[EUR][1000 genomes]
rs7948821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949480	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951194	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs947932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949325	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	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
rs7106748	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 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	chr11:71641200-71648600	Weak transcription	Placenta	Placenta
3	chr11:71641200-71650000	Weak transcription	Colonic Mucosa	Colon
4	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:71641400-71648600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:71641400-71658000	Weak transcription	Lung	lung
10	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
12	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
14	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:71641600-71646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:71641600-71646800	Enhancers	Liver	Liver
17	chr11:71641600-71646800	Enhancers	HepG2	liver
18	chr11:71641600-71647600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:71641600-71647800	Weak transcription	NHEK	skin
20	chr11:71641600-71648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:71641600-71648200	Weak transcription	Right Atrium	heart
22	chr11:71641600-71648400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:71641600-71648400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:71641600-71648600	Weak transcription	Fetal Stomach	stomach
25	chr11:71641600-71648600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:71641600-71648600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:71641600-71648800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:71641600-71649000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
34	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
35	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
38	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:71641600-71673400	Weak transcription	NHLF	lung
40	chr11:71641800-71646600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:71641800-71647800	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:71641800-71647800	Weak transcription	Ovary	ovary
43	chr11:71641800-71648600	Weak transcription	Adipose Nuclei	Adipose
44	chr11:71641800-71648600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:71641800-71651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:71642200-71647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:71642400-71649000	Weak transcription	Brain Anterior Caudate	brain
50	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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