Variant report

Variant	rs670802
Chromosome Location	chr11:71799668-71799669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:71799566-71799745	K562	blood:	n/a	n/a
2	POLR2A	chr11:71799567-71799672	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71789600..71791756-chr11:71798522..71801102,2	MCF-7	breast:
2	chr11:71735259..71738046-chr11:71798702..71801474,2	MCF-7	breast:
3	chr11:71733947..71737964-chr11:71799047..71803336,5	MCF-7	breast:
4	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
5	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:

No data

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10128658	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10736786	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751190	0.85[EUR][1000 genomes]
rs10751193	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793016	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898814	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235440	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12283462	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12293885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541306	0.83[EUR][1000 genomes]
rs1573500	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1573502	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161966	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161991	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1791544	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806778	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1892921	0.85[EUR][1000 genomes]
rs1894003	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939242	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939243	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939245	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939247	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2250866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298456	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511074	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511075	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511076	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511114	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes]
rs28504107	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018301	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018304	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018308	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3133230	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133233	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3793938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814721	0.85[EUR][1000 genomes]
rs3886589	0.81[EUR][1000 genomes]
rs4121395	0.81[EUR][1000 genomes]
rs4338555	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4479013	0.81[EUR][1000 genomes]
rs482013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs493065	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943821	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944242	0.81[EUR][1000 genomes]
rs4944258	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945426	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945435	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs495567	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510925	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs517837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541022	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547208	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs548961	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552966	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560777	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56097487	0.83[EUR][1000 genomes]
rs57025151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585228	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58991229	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs597513	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598835	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607446	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610004	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636946	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642573	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642618	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656640	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592448	0.81[EUR][1000 genomes]
rs6592449	0.81[EUR][1000 genomes]
rs6592451	0.81[EUR][1000 genomes]
rs6592453	0.85[EUR][1000 genomes]
rs6592455	0.85[EUR][1000 genomes]
rs6592458	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592459	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs659513	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs671681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs673478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675185	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676721	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677279	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678193	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679926	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7101701	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113549	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116188	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116495	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121260	0.85[EUR][1000 genomes]
rs7123102	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124000	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7126838	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127865	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	0.85[EUR][1000 genomes]
rs7128974	0.85[EUR][1000 genomes]
rs73531952	0.85[EUR][1000 genomes]
rs73539529	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73539532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73543609	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73543633	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7480015	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7924516	0.81[EUR][1000 genomes]
rs7930142	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930544	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930721	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930722	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7937515	0.86[ASN][1000 genomes]
rs7937582	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7949480	0.85[EUR][1000 genomes]
rs947932	0.81[EUR][1000 genomes]
rs949325	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[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
rs670802	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
3	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:71792600-71800800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:71792600-71802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:71792600-71802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:71792600-71804200	Weak transcription	Aorta	Aorta
8	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
12	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
14	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
15	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
17	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
18	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:71792800-71801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:71792800-71801000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:71792800-71801400	Weak transcription	HepG2	liver
22	chr11:71792800-71801800	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:71792800-71801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:71792800-71802000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:71792800-71802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:71792800-71802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:71792800-71804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:71792800-71808200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:71792800-71808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:71793000-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:71793200-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:71793400-71801000	Weak transcription	A549	lung
33	chr11:71793400-71802200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:71793400-71802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:71793400-71803000	Weak transcription	GM12878-XiMat	blood
36	chr11:71793400-71805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:71793600-71802200	Weak transcription	Stomach Mucosa	stomach
38	chr11:71793800-71802400	Weak transcription	HUVEC	blood vessel
39	chr11:71796000-71801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:71796000-71801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:71796000-71801800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:71796000-71802000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:71796200-71802000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:71796400-71800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:71796400-71807600	Weak transcription	HMEC	breast
46	chr11:71797000-71805600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:71797200-71799800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:71797200-71804000	Weak transcription	Brain Germinal Matrix	brain
49	chr11:71797400-71800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:71797400-71802000	Strong transcription	Placenta	Placenta

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