Variant report

Variant	rs674319
Chromosome Location	chr11:71775391-71775392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71774601..71777364-chr11:71811846..71813993,2	K562	blood:
2	chr11:71750827..71754391-chr11:71774462..71777066,3	K562	blood:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10450664	0.81[ASN][1000 genomes]
rs10501408	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1057992	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736780	0.85[ASN][1000 genomes]
rs10736783	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751188	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751191	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751192	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793011	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793013	0.85[ASN][1000 genomes]
rs10793014	0.85[ASN][1000 genomes]
rs10793015	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898812	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235441	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235444	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272086	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12275171	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12293195	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12417471	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1541304	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548348	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573501	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1573503	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161751	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1892920	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1894004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155142	0.85[ASN][1000 genomes]
rs2155145	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2155146	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276384	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276396	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2503	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508856	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508860	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511120	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735787	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2845860	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852365	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018310	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750907	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3829215	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245463	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4378421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4387373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399349	0.82[ASN][1000 genomes]
rs4412771	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4477459	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs482197	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944243	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945378	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945392	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs510925	0.80[AMR][1000 genomes]
rs541228	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56255748	0.85[ASN][1000 genomes]
rs564294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs567026	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575831	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575871	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs577435	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58417942	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595062	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60054591	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs612255	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628025	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs645603	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592447	0.85[ASN][1000 genomes]
rs6592456	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592457	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661290	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs671132	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs686340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7101553	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7102523	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106653	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106730	0.85[ASN][1000 genomes]
rs7111379	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113436	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113520	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7115513	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121080	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126394	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73531955	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73543612	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543635	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73543640	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73543643	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7924834	0.85[ASN][1000 genomes]
rs7942626	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7951564	0.81[ASN][1000 genomes]
rs949323	0.81[ASN][1000 genomes]
rs949326	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9666346	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[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
rs674319	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71777400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:71754200-71777600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:71754200-71777600	Weak transcription	Colonic Mucosa	Colon
4	chr11:71754200-71777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
7	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
8	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:71755800-71778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:71757200-71777600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:71757400-71777800	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:71757800-71776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:71760000-71777600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart
20	chr11:71760400-71776800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:71760400-71777400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:71760400-71777400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:71760400-71777400	Weak transcription	Brain Substantia Nigra	brain
24	chr11:71760400-71777600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:71760400-71778200	Weak transcription	Fetal Kidney	kidney
26	chr11:71760400-71778600	Weak transcription	Fetal Lung	lung
27	chr11:71760400-71778800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:71760400-71780200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:71760400-71780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:71760400-71780400	Weak transcription	Liver	Liver
31	chr11:71760400-71780400	Weak transcription	Ovary	ovary
32	chr11:71760400-71780600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:71760600-71777400	Weak transcription	Adipose Nuclei	Adipose
34	chr11:71760600-71780400	Weak transcription	Gastric	stomach
35	chr11:71760600-71780800	Weak transcription	Spleen	Spleen
36	chr11:71761400-71778600	Weak transcription	Placenta	Placenta
37	chr11:71761600-71777600	Weak transcription	Stomach Mucosa	stomach
38	chr11:71761800-71776600	Weak transcription	K562	blood
39	chr11:71766600-71778000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:71767000-71777400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:71767200-71777600	Weak transcription	Pancreas	Pancrea
42	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:71768000-71780200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:71768000-71780400	Weak transcription	Small Intestine	intestine
45	chr11:71769200-71776800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:71769200-71780400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:71769600-71777600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:71769600-71780000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:71770000-71777600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:71770000-71777600	Weak transcription	Osteobl	bone

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