Variant report

Variant	esv2590619
Chromosome Location	chr18:11970990-11972739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11972504..11976144-chr18:11977097..11981347,7	K562	blood:
2	chr18:11967810..11971954-chr18:11978967..11982085,5	K562	blood:
3	chr18:11945871..11949775-chr18:11972448..11976477,3	K562	blood:
4	chr18:11972504..11978571-chr18:11978817..11983017,10	K562	blood:
5	chr18:11968537..11977808-chr18:11979434..11985075,12	MCF-7	breast:
6	chr18:11972047..11973789-chr18:11978802..11980433,2	MCF-7	breast:
7	chr18:11970057..11972089-chr18:11979053..11982346,3	K562	blood:

Variant related genes	Relation type
ENSG00000141401	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531384452	chr18:11971032-11971033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34744282	chr18:11971077-11971078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs611930	chr18:11971118-11971119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369963779	chr18:11971159-11971160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146501996	chr18:11971167-11971168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188311966	chr18:11971201-11971202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532117804	chr18:11971240-11971241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563523046	chr18:11971242-11971243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193194092	chr18:11971246-11971247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536187661	chr18:11971256-11971257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547942476	chr18:11971259-11971260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569518552	chr18:11971291-11971292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139055321	chr18:11971388-11971389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142959114	chr18:11971389-11971390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578063800	chr18:11971394-11971395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539003676	chr18:11971410-11971411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78006091	chr18:11971425-11971426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572656321	chr18:11971431-11971432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377254527	chr18:11971453-11971454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112497396	chr18:11971493-11971494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374733990	chr18:11971534-11971535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576725292	chr18:11971536-11971537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140231953	chr18:11971569-11971570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569347585	chr18:11971574-11971575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11876711	chr18:11971667-11971668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75375687	chr18:11971690-11971691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144825497	chr18:11971699-11971700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376172266	chr18:11971700-11971701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61284270	chr18:11971713-11971714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386801326	chr18:11971714-11971715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189060155	chr18:11971732-11971733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141998976	chr18:11971749-11971750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75960287	chr18:11971784-11971785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201899931	chr18:11971786-11971787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372787031	chr18:11971812-11971813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76541274	chr18:11971823-11971824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377119008	chr18:11971915-11971916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111333064	chr18:11971926-11971927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369397362	chr18:11971929-11971930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9950318	chr18:11971934-11971935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192163305	chr18:11971992-11971993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9303756	chr18:11971994-11971995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549307805	chr18:11972028-11972029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552117861	chr18:11972072-11972073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112663256	chr18:11972074-11972075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112319058	chr18:11972079-11972080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113198087	chr18:11972080-11972081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571676861	chr18:11972103-11972104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539218886	chr18:11972104-11972105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113975292	chr18:11972116-11972117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11961200-11972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11964400-11980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:11970200-11972200	Enhancers	Placenta	Placenta
4	chr18:11970400-11971000	Enhancers	A549	lung
5	chr18:11970800-11974400	Weak transcription	Fetal Lung	lung
6	chr18:11971000-11977000	Weak transcription	A549	lung
7	chr18:11972200-11972400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:11972200-11972400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr18:11972200-11972800	Flanking Active TSS	Placenta	Placenta
10	chr18:11972400-11972600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr18:11972400-11973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:11972400-11973000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr18:11972400-11973000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:11972400-11973000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:11972400-11973000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr18:11972400-11974000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr18:11972400-11974400	Weak transcription	Fetal Stomach	stomach
18	chr18:11972400-11975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:11972600-11973000	Enhancers	Primary B cells from cord blood	blood
20	chr18:11972600-11973000	Active TSS	Stomach Mucosa	stomach
21	chr18:11972600-11973600	Enhancers	GM12878-XiMat	blood
22	chr18:11972600-11973800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr18:11972600-11974000	Enhancers	Primary monocytes fromperipheralblood	blood

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