Variant report

Variant	rs547208
Chromosome Location	chr11:71779668-71779669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71778482..71780847-chr11:71823918..71825568,2	MCF-7	breast:
2	chr11:71777361..71780119-chr11:71790891..71793278,3	MCF-7	breast:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71779055..71780591-chr11:71811927..71814080,2	K562	blood:
5	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
6	chr11:71761716..71763400-chr11:71778693..71780615,2	MCF-7	breast:
7	chr11:71776798..71779888-chr11:71780509..71784751,5	K562	blood:

Variant related genes	Relation type
ENSG00000263742	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10128658	0.82[ASN][1000 genomes]
rs10736786	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10751193	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10793016	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10898814	0.82[ASN][1000 genomes]
rs11235440	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12272213	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12283462	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12293885	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1573500	0.81[ASN][1000 genomes]
rs1573502	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17161966	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17161980	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17161991	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1791544	0.92[ASN][1000 genomes]
rs1806778	0.86[ASN][1000 genomes]
rs1894003	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1939242	0.88[ASN][1000 genomes]
rs1939243	0.82[ASN][1000 genomes]
rs1939245	0.82[ASN][1000 genomes]
rs1939247	0.82[ASN][1000 genomes]
rs2250866	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2298456	0.81[ASN][1000 genomes]
rs2511074	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511075	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511078	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2511079	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2511114	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2511116	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511122	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28504107	0.84[ASN][1000 genomes]
rs3018301	0.92[ASN][1000 genomes]
rs3018304	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3018308	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3133230	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3133233	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3750908	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3793938	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4338555	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs482013	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs493065	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4943821	0.88[ASN][1000 genomes]
rs4944258	0.82[ASN][1000 genomes]
rs4944259	0.82[ASN][1000 genomes]
rs4945426	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4945434	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4945435	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs495567	0.92[ASN][1000 genomes]
rs510925	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs517837	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs541022	0.94[ASN][1000 genomes]
rs542752	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs548961	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552966	0.92[ASN][1000 genomes]
rs560777	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57025151	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs585228	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58991229	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs597513	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs598835	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs607446	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs610004	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs610041	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs615000	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs627329	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs636946	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs642573	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	0.92[ASN][1000 genomes]
rs656640	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6592458	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6592459	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs659513	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs670802	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs671681	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs673478	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs675185	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs677279	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs678193	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs679926	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7101701	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7113549	0.86[ASN][1000 genomes]
rs7116188	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7116495	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7123102	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7124000	0.88[ASN][1000 genomes]
rs7126838	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7127865	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73539529	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73539532	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73543609	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73543633	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7480015	0.80[ASN][1000 genomes]
rs7930142	0.82[ASN][1000 genomes]
rs7930544	0.82[ASN][1000 genomes]
rs7930721	0.82[ASN][1000 genomes]
rs7930722	0.82[ASN][1000 genomes]
rs7937582	0.82[ASN][1000 genomes]
rs949325	0.81[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
rs547208	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
3	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
4	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart
11	chr11:71760400-71780200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:71760400-71780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:71760400-71780400	Weak transcription	Liver	Liver
14	chr11:71760400-71780400	Weak transcription	Ovary	ovary
15	chr11:71760400-71780600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:71760600-71780400	Weak transcription	Gastric	stomach
17	chr11:71760600-71780800	Weak transcription	Spleen	Spleen
18	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:71768000-71780200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:71768000-71780400	Weak transcription	Small Intestine	intestine
21	chr11:71769200-71780400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:71769600-71780000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:71770000-71780400	Weak transcription	Right Ventricle	heart
24	chr11:71770000-71783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:71770400-71780200	Weak transcription	HSMMtube	muscle
26	chr11:71770600-71781000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:71771400-71780600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:71771600-71780000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
30	chr11:71773200-71780000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:71773200-71780000	Weak transcription	NH-A	brain
32	chr11:71773200-71783200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:71773400-71780000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:71773600-71780400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:71773600-71783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:71774600-71779800	Weak transcription	HMEC	breast
37	chr11:71774600-71780400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:71776600-71780200	Strong transcription	K562	blood
39	chr11:71776600-71783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:71776800-71779800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:71776800-71780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:71776800-71781600	Strong transcription	Dnd41	blood
43	chr11:71777000-71780000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:71777000-71780400	Strong transcription	Fetal Thymus	thymus
45	chr11:71777200-71780200	Strong transcription	NHEK	skin
46	chr11:71777400-71779800	Strong transcription	Primary T cells from cord blood	blood
47	chr11:71777400-71780000	Enhancers	Adipose Nuclei	Adipose
48	chr11:71777400-71780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:71777400-71780400	Enhancers	HUVEC	blood vessel
50	chr11:71777400-71783000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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