Variant report

Variant	rs1791544
Chromosome Location	chr11:71784957-71784958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
4	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
5	chr11:71765074..71767512-chr11:71783461..71785130,2	MCF-7	breast:
6	chr11:71783566..71785134-chr11:71785385..71786915,2	K562	blood:

Variant related genes	Relation type
ENSG00000263742	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000212089	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10128658	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751190	0.81[EUR][1000 genomes]
rs10751193	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898814	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272213	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283462	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293885	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573500	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573502	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161980	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161991	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806778	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892919	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1892921	0.81[EUR][1000 genomes]
rs1894003	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939242	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939243	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250866	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298456	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511074	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511076	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511078	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511079	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511114	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511116	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511121	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2511122	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845857	0.86[EUR][1000 genomes]
rs28504107	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018301	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018304	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018308	0.98[ASN][1000 genomes]
rs3133230	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133233	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750908	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793938	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3814721	0.81[EUR][1000 genomes]
rs4338555	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482013	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493065	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943821	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944258	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945426	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510925	0.94[ASN][1000 genomes]
rs517837	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541022	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542752	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547208	0.92[ASN][1000 genomes]
rs548961	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57025151	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585228	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58991229	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597513	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598835	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607446	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610004	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610041	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs615000	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627329	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636946	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642573	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642618	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656640	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	0.81[EUR][1000 genomes]
rs6592455	0.81[EUR][1000 genomes]
rs6592458	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592459	0.99[ASN][1000 genomes]
rs659513	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670802	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671681	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673478	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675185	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676721	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677279	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678193	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679926	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101701	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113549	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116188	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116495	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121260	0.81[EUR][1000 genomes]
rs7123102	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124000	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126838	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127865	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128317	0.81[EUR][1000 genomes]
rs7128974	0.81[EUR][1000 genomes]
rs73531952	0.81[EUR][1000 genomes]
rs73539529	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73539532	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543609	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543633	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7480015	0.84[ASN][1000 genomes]
rs7930142	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937515	0.85[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs7949480	0.81[EUR][1000 genomes]
rs949325	0.81[EUR][1000 genomes];0.85[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
rs1791544	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 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	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
7	chr11:71780200-71785000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:71781600-71789400	Weak transcription	Liver	Liver
12	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
15	chr11:71782000-71786200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:71782000-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
19	chr11:71782000-71790200	Weak transcription	Ovary	ovary
20	chr11:71782200-71786200	Weak transcription	K562	blood
21	chr11:71783000-71785000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:71783200-71789000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:71783400-71786200	Weak transcription	Brain Substantia Nigra	brain
24	chr11:71783400-71787800	Weak transcription	Primary B cells from cord blood	blood
25	chr11:71783400-71790000	Weak transcription	Psoas Muscle	Psoas
26	chr11:71783600-71786200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:71783600-71786200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:71783600-71786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:71783600-71786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:71783600-71786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:71783600-71786400	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:71783600-71786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:71783600-71789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:71783600-71789400	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:71783600-71789400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:71783600-71789600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:71783600-71789800	Weak transcription	Pancreas	Pancrea
38	chr11:71783600-71790200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:71783600-71790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:71783600-71790800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:71783600-71790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:71783800-71785000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:71783800-71785000	Enhancers	HUVEC	blood vessel
44	chr11:71783800-71785600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:71783800-71785600	Weak transcription	Fetal Intestine Small	intestine
46	chr11:71783800-71785800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:71783800-71786200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:71783800-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:71783800-71786200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:71783800-71786400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links