Variant report

Variant	rs7124000
Chromosome Location	chr11:71754338-71754339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71753763..71756267-chr11:71760167..71762395,2	K562	blood:
2	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
3	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
4	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
5	chr11:71748940..71751872-chr11:71754004..71757181,3	K562	blood:
6	chr11:71748940..71751446-chr11:71753582..71757181,3	K562	blood:
7	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
8	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
9	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000263742	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10128658	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10736781	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736782	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736786	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751189	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751190	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751193	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898814	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898817	0.89[ASN][1000 genomes]
rs11235440	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272213	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12283462	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12293885	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1541306	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573500	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573502	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161966	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161980	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161991	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1791544	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806778	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1892921	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894003	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1939242	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939243	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939245	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939247	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2187496	0.83[ASN][1000 genomes]
rs2250866	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298456	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511074	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511075	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511078	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511079	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511114	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511116	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28504107	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2885880	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3018301	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018304	0.90[ASN][1000 genomes]
rs3018308	0.94[ASN][1000 genomes]
rs3133230	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133233	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750908	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3793938	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3814721	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3886589	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121395	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479013	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4491255	0.80[ASN][1000 genomes]
rs482013	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs493065	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4943821	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944232	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944242	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944258	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944259	0.94[ASN][1000 genomes]
rs4945353	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945426	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945434	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495567	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs510925	0.92[ASN][1000 genomes]
rs517837	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs541022	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542752	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs547208	0.88[ASN][1000 genomes]
rs548961	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552966	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55972015	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560777	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56097487	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57025151	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585228	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58991229	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs597513	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs598835	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs607446	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs610004	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs610041	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615000	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627329	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs636946	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642573	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656640	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592448	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592449	0.90[EUR][1000 genomes]
rs6592450	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592451	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592452	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592453	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592455	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592459	0.91[ASN][1000 genomes]
rs659513	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670802	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671681	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs673478	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs675185	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677279	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs678193	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679926	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101701	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102192	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7103210	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106748	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113549	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116188	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116495	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7121260	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123102	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7126838	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127865	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128317	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128346	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7128974	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73531952	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73539529	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73539532	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543609	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543633	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7480015	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924516	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930142	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930544	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930721	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930722	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931941	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7937515	0.82[ASN][1000 genomes]
rs7937582	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943227	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7948821	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949480	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947932	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949325	0.95[EUR][1000 genomes];0.93[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
rs7124000	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71752800-71754400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr11:71753200-71756200	Weak transcription	Ovary	ovary
3	chr11:71753200-71759800	Weak transcription	K562	blood
4	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:71753400-71754400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:71753400-71754400	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:71753400-71754400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:71753400-71754600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:71753400-71754800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:71753400-71754800	Enhancers	Fetal Stomach	stomach
12	chr11:71753400-71754800	Enhancers	Fetal Thymus	thymus
13	chr11:71753400-71755000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:71753400-71755000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:71753400-71755200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:71753400-71755200	Enhancers	HepG2	liver
17	chr11:71753400-71759600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:71753400-71759600	Weak transcription	Left Ventricle	heart
19	chr11:71753400-71759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:71753400-71765800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:71753400-71769800	Weak transcription	Psoas Muscle	Psoas
22	chr11:71753600-71754400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:71753600-71754800	Enhancers	Fetal Intestine Large	intestine
24	chr11:71753600-71754800	Enhancers	Fetal Intestine Small	intestine
25	chr11:71753600-71755000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:71753600-71755000	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:71753600-71755200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:71753600-71755400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:71753600-71755600	Enhancers	Colon Smooth Muscle	Colon
30	chr11:71753600-71756000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:71753600-71756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr11:71753800-71754400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:71753800-71754400	Enhancers	Fetal Brain Male	brain
34	chr11:71753800-71754400	Enhancers	Fetal Heart	heart
35	chr11:71753800-71754800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:71753800-71755200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:71753800-71755400	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:71753800-71756400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:71753800-71756600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:71753800-71757200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:71753800-71759200	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:71753800-71759800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:71753800-71759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:71753800-71759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:71753800-71759800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:71753800-71759800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:71753800-71760000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:71753800-71760200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:71753800-71764600	Weak transcription	HSMM	muscle
50	chr11:71754000-71754800	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links