Variant report

Variant	rs7101553
Chromosome Location	chr11:71753903-71753904
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71753763..71756267-chr11:71760167..71762395,2	K562	blood:
2	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
3	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
4	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
5	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
6	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
7	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
8	chr11:71748940..71751446-chr11:71753582..71757181,3	K562	blood:
9	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
10	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
11	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

No data

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

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10450664	0.85[ASN][1000 genomes]
rs10501408	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1057992	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10736780	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10736783	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751188	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751191	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751192	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793011	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793013	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793014	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793015	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898812	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235441	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235444	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12272086	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12275171	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12293195	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12417471	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1541304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548348	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573501	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1573503	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161751	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1892920	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894004	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155142	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155145	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155146	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276384	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276396	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2503	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508856	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508860	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511120	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2735787	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845860	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2852365	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3018310	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750907	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3829215	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4245463	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4269951	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4378421	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4387373	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4399349	0.86[ASN][1000 genomes]
rs4412771	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4477459	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482197	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944243	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945378	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945382	0.82[ASN][1000 genomes]
rs4945392	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs541228	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56255748	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs564294	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs567026	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575831	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs575871	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs577435	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58417942	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs595062	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60054591	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs612255	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628025	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs645603	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592447	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6592456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592457	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661290	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671132	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs674319	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs686340	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102523	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106653	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106730	0.89[ASN][1000 genomes]
rs7111379	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113436	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7113520	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7115513	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7121080	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126394	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73531955	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73543612	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73543635	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73543640	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73543643	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7924834	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7938496	0.85[EUR][1000 genomes]
rs7942626	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7951564	0.85[ASN][1000 genomes]
rs949323	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs949326	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9666346	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9735988	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
rs7101553	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	chr11:71750000-71754000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:71751800-71754000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71752400-71754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:71752400-71754000	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:71752400-71754200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:71752400-71754200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:71752800-71754000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:71752800-71754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:71752800-71754400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71753000-71754000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:71753000-71754000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:71753000-71754000	Enhancers	Small Intestine	intestine
13	chr11:71753000-71754200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr11:71753000-71754200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:71753000-71754200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:71753000-71754200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:71753000-71754200	Enhancers	Spleen	Spleen
18	chr11:71753200-71754000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:71753200-71754000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:71753200-71754200	Flanking Active TSS	Fetal Kidney	kidney
21	chr11:71753200-71754200	Enhancers	Placenta	Placenta
22	chr11:71753200-71754200	Enhancers	Lung	lung
23	chr11:71753200-71754200	Enhancers	Pancreas	Pancrea
24	chr11:71753200-71754200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:71753200-71756200	Weak transcription	Ovary	ovary
26	chr11:71753200-71759800	Weak transcription	K562	blood
27	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:71753400-71754000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:71753400-71754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:71753400-71754000	Enhancers	Liver	Liver
32	chr11:71753400-71754000	Enhancers	Brain Angular Gyrus	brain
33	chr11:71753400-71754000	Enhancers	Brain Substantia Nigra	brain
34	chr11:71753400-71754000	Enhancers	Right Atrium	heart
35	chr11:71753400-71754000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:71753400-71754200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:71753400-71754200	Enhancers	Esophagus	oesophagus
38	chr11:71753400-71754200	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:71753400-71754200	Enhancers	Right Ventricle	heart
40	chr11:71753400-71754200	Enhancers	Stomach Mucosa	stomach
41	chr11:71753400-71754200	Flanking Active TSS	Dnd41	blood
42	chr11:71753400-71754200	Enhancers	HMEC	breast
43	chr11:71753400-71754200	Enhancers	HUVEC	blood vessel
44	chr11:71753400-71754200	Enhancers	NHDF-Ad	bronchial
45	chr11:71753400-71754400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:71753400-71754400	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:71753400-71754400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:71753400-71754600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:71753400-71754800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:71753400-71754800	Enhancers	Fetal Stomach	stomach

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