Variant report

Variant	rs2511120
Chromosome Location	chr11:71786211-71786212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:71786149-71786535	K562	blood:	n/a	n/a
2	CTCF	chr11:71786132-71786531	GM12878	blood:	n/a	n/a
3	ZNF143	chr11:71786178-71786492	K562	blood:	n/a	n/a
4	SPI1	chr11:71786190-71786615	GM12878	blood:	n/a	n/a
5	SPI1	chr11:71786201-71786564	GM12891	blood:	n/a	n/a
6	CBX3	chr11:71786196-71786525	K562	blood:	n/a	n/a
7	CTCF	chr11:71786200-71786350	HPF	lung:	n/a	n/a
8	CTCF	chr11:71786180-71786330	HRE	kidney:	n/a	n/a
9	SPI1	chr11:71786125-71786669	HL-60	blood:	n/a	n/a
10	CTCF	chr11:71786160-71786410	HCM	heart:	n/a	n/a
11	ZNF143	chr11:71786203-71786511	GM12878	blood:	n/a	n/a
12	CTCF	chr11:71786180-71786330	AG04450	lung:	n/a	n/a
13	CTCF	chr11:71786187-71786496	MCF-7	breast:	n/a	n/a
14	TEAD4	chr11:71786139-71786575	K562	blood:	n/a	n/a
15	CTCF	chr11:71786200-71786350	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:71786155-71786541	K562	blood:	n/a	n/a
17	CTCF	chr11:71786160-71786310	K562	blood:	n/a	n/a
18	RAD21	chr11:71786195-71786516	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:71786203-71786397	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71779806..71783480-chr11:71784748..71787968,4	MCF-7	breast:
3	chr11:71785228..71787709-chr11:71818324..71820591,2	K562	blood:
4	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
5	chr11:71783566..71785134-chr11:71785385..71786915,2	K562	blood:

No data

Variant related genes	Relation type
MIR3165	TF binding region
ENSG00000263742	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000212089	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10501408	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1057992	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736780	0.82[ASN][1000 genomes]
rs10736783	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10751188	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10751191	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10751192	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10793011	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10793013	0.82[ASN][1000 genomes]
rs10793014	0.82[ASN][1000 genomes]
rs10793015	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10898812	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235444	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272086	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12275171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12293195	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12417471	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1541304	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1548348	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1573501	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573503	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17161751	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1892920	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894004	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2155142	0.82[ASN][1000 genomes]
rs2155145	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155146	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276384	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276396	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2503	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2508856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735787	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2845860	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2852365	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3018310	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829215	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4245463	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4378421	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4387373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4412771	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4477459	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944243	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4945378	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4945392	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs510925	0.86[AMR][1000 genomes]
rs541228	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56255748	0.82[ASN][1000 genomes]
rs564294	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs567026	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs575831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575871	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs577435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58417942	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs595062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60054591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs612255	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628025	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645603	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592447	0.82[ASN][1000 genomes]
rs6592456	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592457	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661290	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs671132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674319	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs686340	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101553	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102523	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7106653	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7106730	0.82[ASN][1000 genomes]
rs7111379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7113436	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7113520	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7115513	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7121080	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126394	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73531955	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73543612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73543635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73543640	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73543643	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924834	0.82[ASN][1000 genomes]
rs7942626	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949326	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9666346	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[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
rs2511120	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
4	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
6	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:71781600-71789400	Weak transcription	Liver	Liver
10	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
13	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
15	chr11:71782000-71790200	Weak transcription	Ovary	ovary
16	chr11:71783200-71789000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:71783400-71787800	Weak transcription	Primary B cells from cord blood	blood
18	chr11:71783400-71790000	Weak transcription	Psoas Muscle	Psoas
19	chr11:71783600-71786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:71783600-71786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:71783600-71786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:71783600-71786400	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:71783600-71786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:71783600-71789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:71783600-71789400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:71783600-71789400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:71783600-71789600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:71783600-71789800	Weak transcription	Pancreas	Pancrea
29	chr11:71783600-71790200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:71783600-71790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:71783600-71790800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:71783600-71790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:71783800-71786400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:71783800-71786400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:71783800-71786400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:71783800-71786400	Weak transcription	Adipose Nuclei	Adipose
37	chr11:71783800-71786400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:71783800-71787800	Strong transcription	Fetal Stomach	stomach
39	chr11:71783800-71788400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:71783800-71789000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:71783800-71789200	Weak transcription	HepG2	liver
42	chr11:71783800-71789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:71783800-71789400	Weak transcription	Brain Angular Gyrus	brain
44	chr11:71783800-71789600	Weak transcription	NHLF	lung
45	chr11:71783800-71790000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:71783800-71790000	Weak transcription	Esophagus	oesophagus
47	chr11:71783800-71790000	Weak transcription	Right Atrium	heart
48	chr11:71783800-71790000	Weak transcription	Right Ventricle	heart
49	chr11:71783800-71790400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:71783800-71790400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links