Variant report

Variant	rs2735787
Chromosome Location	chr11:71717873-71717874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71716414..71718231-chr11:71724579..71726392,2	MCF-7	breast:
2	chr11:71716531..71721205-chr11:71721229..71725488,7	K562	blood:
3	chr11:71716531..71718508-chr11:71722481..71724211,2	K562	blood:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction
ENSG00000251143	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10450664	0.92[ASN][1000 genomes]
rs10501408	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057992	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736780	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736783	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751188	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751192	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793011	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793013	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793014	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793015	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235441	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235444	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12272086	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12275171	0.85[ASN][1000 genomes]
rs12293195	0.89[EUR][1000 genomes]
rs12417471	0.82[ASN][1000 genomes]
rs1541304	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548348	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573501	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573503	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161751	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1791456	0.85[ASN][1000 genomes]
rs1892920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894004	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939241	0.81[AMR][1000 genomes]
rs2155142	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155146	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276384	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276396	0.85[ASN][1000 genomes]
rs2503	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508856	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508860	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511120	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2845860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852365	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018310	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750907	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4245463	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269951	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4378421	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4387373	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4399349	0.94[ASN][1000 genomes]
rs4412771	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4477459	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482197	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488829	0.85[ASN][1000 genomes]
rs492135	0.86[ASN][1000 genomes]
rs4944243	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945382	0.89[ASN][1000 genomes]
rs4945391	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4945392	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs518959	0.85[ASN][1000 genomes]
rs538569	0.84[ASN][1000 genomes]
rs541228	0.82[ASN][1000 genomes]
rs542097	0.85[ASN][1000 genomes]
rs56255748	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs564294	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567851	0.85[ASN][1000 genomes]
rs575831	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs575871	0.80[ASN][1000 genomes]
rs577435	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58417942	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs592051	0.81[ASN][1000 genomes]
rs595062	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60054591	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs612255	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs628025	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs645603	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592457	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661290	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs671132	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs674319	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs686340	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7101553	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106653	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106730	0.96[ASN][1000 genomes]
rs7111379	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113436	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113520	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7121080	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126394	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73531955	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73543612	0.90[ASN][1000 genomes]
rs73543635	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73543640	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73543643	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7924834	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7937408	0.81[ASN][1000 genomes]
rs7938496	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7942626	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7951564	0.92[ASN][1000 genomes]
rs949323	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949326	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9666346	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9735988	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
rs2735787	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr11:71709400-71723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:71709600-71722400	Strong transcription	Fetal Brain Female	brain
6	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
12	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
14	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:71711000-71723800	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:71711000-71735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:71711000-71748800	Strong transcription	Dnd41	blood
24	chr11:71711200-71722200	Weak transcription	Right Atrium	heart
25	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:71711400-71723400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:71711400-71723400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:71711400-71723800	Strong transcription	Liver	Liver
29	chr11:71711400-71725200	Strong transcription	Thymus	Thymus
30	chr11:71711400-71735800	Strong transcription	Osteobl	bone
31	chr11:71711400-71736400	Strong transcription	GM12878-XiMat	blood
32	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
33	chr11:71711600-71721600	Strong transcription	Brain Angular Gyrus	brain
34	chr11:71711600-71723800	Strong transcription	Adipose Nuclei	Adipose
35	chr11:71711600-71723800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:71711600-71724000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:71711600-71724200	Strong transcription	Colonic Mucosa	Colon
38	chr11:71711600-71735200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:71711600-71735600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:71711600-71735800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:71711600-71736400	Strong transcription	Primary T cells from cord blood	blood
42	chr11:71711600-71736600	Strong transcription	Fetal Lung	lung
43	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:71711800-71723200	Strong transcription	Gastric	stomach
45	chr11:71711800-71723200	Strong transcription	NHLF	lung
46	chr11:71711800-71735800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:71711800-71736400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:71711800-71736400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:71711800-71736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:71711800-71736600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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