Variant report

Variant	rs518959
Chromosome Location	chr11:71601105-71601106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71601069-71601119	PANC-1	pancreas:	n/a
2	chr11:71601069-71601119	A549	lung:	n/a
3	chr11:71601069-71601119	HCF	heart:	n/a
4	chr11:71601069-71601119	ovcar-3	ovarian:	n/a
5	chr11:71601069-71601119	HL-60	blood:	n/a
6	chr11:71601069-71601119	IMR90	lung:	fetal
7	chr11:71601069-71601119	U87	brain:	n/a
8	chr11:71601069-71601119	HRPEpiC	eye:	n/a
9	chr11:71601069-71601119	AG10803	skin:	n/a
10	chr11:71601069-71601119	GM06990	blood:	n/a
11	chr11:71601069-71601119	H1-hESC	embryonic stem cell:	embryo
12	chr11:71601069-71601119	HNPCEpiC	eye:	n/a
13	chr11:71601069-71601119	GM19239	blood:	n/a
14	chr11:71601069-71601119	GM12892	blood:	n/a
15	chr11:71601069-71601119	GM12891	blood:	n/a
16	chr11:71601069-71601119	K562	blood:	n/a
17	chr11:71601069-71601119	HAEpiC	amniotic membrane:	n/a
18	chr11:71601069-71601119	NT2-D1	testis:	n/a
19	chr11:71601069-71601119	HMEC	breast:	n/a
20	chr11:71601069-71601119	BE2_C	brain:	n/a
21	chr11:71601069-71601119	PrEC	prostate:	n/a
22	chr11:71601069-71601119	ProgFib	skin:	n/a
23	chr11:71601069-71601119	HUVEC	blood vessel:	n/a
24	chr11:71601069-71601119	HCT-116	colon:	n/a
25	chr11:71601069-71601119	BJ	skin:	n/a
26	chr11:71601069-71601119	LNCaP	prostate:	n/a
27	chr11:71601069-71601119	CMK	blood:	n/a
28	chr11:71601069-71601119	RPTEC	kidney:	n/a
29	chr11:71601069-71601119	MCF10A-Er-Src	breast:	n/a
30	chr11:71601069-71601119	NHDF-neo	bronchial:	n/a
31	chr11:71601069-71601119	HIPEpiC	eye:	n/a
32	chr11:71601069-71601119	HEK293	kidney:	embryo
33	chr11:71601069-71601119	PFSK-1	brain:	n/a
34	chr11:71601069-71601119	NB4	blood:	n/a
35	chr11:71601069-71601119	SK-N-MC	brain:	n/a
36	chr11:71601069-71601119	MCF-7	breast:	n/a
37	chr11:71601069-71601119	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:71601069-71601119	HepG2	liver:	n/a
39	chr11:71601069-71601119	HRE	kidney:	n/a
40	chr11:71601069-71601119	AG09309	skin:	n/a
41	chr11:71601069-71601119	Caco-2	colon:	n/a
42	chr11:71601069-71601119	HEEpiC	esophagus:	n/a
43	chr11:71601069-71601119	SK-N-SH_RA	brain:	n/a
44	chr11:71601069-71601119	NH-A	brain:	n/a
45	chr11:71601069-71601119	Hepatocyte	liver:	n/a
46	chr11:71601069-71601119	HCPEpiC	choroid plexus:	n/a
47	chr11:71601069-71601119	AG04450	lung:	fetal
48	chr11:71601069-71601119	HCM	heart:	n/a
49	chr11:71601069-71601119	AoSMC	blood vessel:	n/a
50	chr11:71601069-71601119	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
OR7E128P	CpG island

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10450664	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10501408	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1057992	0.85[ASN][1000 genomes]
rs10736780	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736783	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10751188	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10751191	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10751192	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793011	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793013	0.88[ASN][1000 genomes]
rs10793014	0.88[ASN][1000 genomes]
rs10793015	0.88[ASN][1000 genomes]
rs10898812	0.88[ASN][1000 genomes]
rs11501737	0.89[EUR][1000 genomes]
rs12274803	0.89[EUR][1000 genomes]
rs12290931	0.94[EUR][1000 genomes]
rs1541304	0.87[ASN][1000 genomes]
rs1548348	0.82[ASN][1000 genomes]
rs1573501	0.85[ASN][1000 genomes]
rs1573503	0.87[ASN][1000 genomes]
rs17161751	0.88[ASN][1000 genomes]
rs1791453	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1791456	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892920	0.88[ASN][1000 genomes]
rs1894004	0.80[ASN][1000 genomes]
rs2155142	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2155145	0.85[ASN][1000 genomes]
rs2155146	0.85[ASN][1000 genomes]
rs2276384	0.88[ASN][1000 genomes]
rs2503	0.85[ASN][1000 genomes]
rs2511096	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2735787	0.85[ASN][1000 genomes]
rs2845860	0.81[ASN][1000 genomes]
rs2852365	0.87[ASN][1000 genomes]
rs2885661	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35844356	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3829215	0.88[ASN][1000 genomes]
rs4245463	0.85[ASN][1000 genomes]
rs4269951	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399349	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4477459	0.85[ASN][1000 genomes]
rs480341	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs488829	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491319	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs492135	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944243	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4945378	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4945382	0.82[ASN][1000 genomes]
rs4945392	0.88[ASN][1000 genomes]
rs498770	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs501308	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs538569	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs542097	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551715	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs561452	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56255748	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567851	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592051	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs609500	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs610421	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs612687	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs620945	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs625273	0.85[ASN][1000 genomes]
rs6592447	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592456	0.85[ASN][1000 genomes]
rs6592457	0.85[ASN][1000 genomes]
rs7102523	0.88[ASN][1000 genomes]
rs7106653	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7106730	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7113436	0.88[ASN][1000 genomes]
rs7113520	0.88[ASN][1000 genomes]
rs7115513	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7121080	0.88[ASN][1000 genomes]
rs7126394	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73531955	0.88[ASN][1000 genomes]
rs7924834	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7942626	0.88[ASN][1000 genomes]
rs7951564	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs949323	0.83[ASN][1000 genomes]
rs949326	0.80[ASN][1000 genomes]
rs9666346	0.80[ASN][1000 genomes]
rs9735988	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	esv11824	chr11:71515433-71603968	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs518959	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71579800-71613800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr11:71580000-71614200	Weak transcription	Ovary	ovary
3	chr11:71580400-71607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:71580400-71616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:71581200-71607000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:71581800-71615200	Weak transcription	Primary B cells from cord blood	blood
7	chr11:71582000-71602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:71583600-71602400	Weak transcription	Fetal Stomach	stomach
9	chr11:71586000-71623000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:71586800-71624000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:71587000-71618600	Weak transcription	Dnd41	blood
12	chr11:71587000-71621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:71587400-71627400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:71587600-71624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:71587800-71611400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:71588000-71622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:71588000-71623000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:71588400-71614200	Weak transcription	Left Ventricle	heart
19	chr11:71588600-71624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:71589200-71622800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:71591400-71638200	Weak transcription	Right Ventricle	heart
22	chr11:71592200-71623200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:71598400-71607000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:71598400-71625000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:71598600-71612200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:71599200-71614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:71599600-71624000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:71599800-71601200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:71599800-71622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:71600000-71635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:71600200-71624000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:71600200-71625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:71600800-71622800	Weak transcription	Gastric	stomach
34	chr11:71601000-71626600	Weak transcription	Pancreas	Pancrea

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