Variant report

Variant	esv3498493
Chromosome Location	chr18:13227093-13227536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13226398..13229560-chr18:13232125..13236070,6	MCF-7	breast:
2	chr18:13217023..13220421-chr18:13225382..13228239,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576301012	chr18:13227115-13227116	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111380023	chr18:13227117-13227118	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542591493	chr18:13227153-13227154	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561253537	chr18:13227167-13227168	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576926784	chr18:13227175-13227176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374115373	chr18:13227206-13227207	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs118054774	chr18:13227227-13227228	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540260636	chr18:13227295-13227296	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79011665	chr18:13227303-13227304	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529833274	chr18:13227310-13227311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547971053	chr18:13227346-13227347	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs367661565	chr18:13227394-13227395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114591283	chr18:13227398-13227399	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371430674	chr18:13227429-13227430	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577055004	chr18:13227441-13227442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111432655	chr18:13227442-13227443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571574447	chr18:13227479-13227480	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4239310	chr18:13227481-13227482	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138984347	chr18:13227490-13227491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73415340	chr18:13227529-13227530	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182217973	chr18:13227536-13227537	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13223000-13231000	Genic enhancers	Fetal Thymus	thymus
2	chr18:13223400-13232600	Weak transcription	Fetal Intestine Large	intestine
3	chr18:13223400-13235400	Weak transcription	Fetal Kidney	kidney
4	chr18:13223600-13232200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:13223600-13235600	Weak transcription	Fetal Intestine Small	intestine
6	chr18:13223600-13241400	Weak transcription	Aorta	Aorta
7	chr18:13223800-13232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:13223800-13234200	Weak transcription	Liver	Liver
9	chr18:13223800-13259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:13224000-13232000	Weak transcription	Gastric	stomach
11	chr18:13224000-13234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:13224000-13235400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:13224000-13259800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:13224200-13232000	Weak transcription	Brain Angular Gyrus	brain
15	chr18:13224200-13233400	Weak transcription	HepG2	liver
16	chr18:13224400-13227200	Weak transcription	Psoas Muscle	Psoas
17	chr18:13224400-13228000	Weak transcription	Esophagus	oesophagus
18	chr18:13224400-13228000	Weak transcription	Fetal Brain Male	brain
19	chr18:13224400-13228400	Weak transcription	Fetal Brain Female	brain
20	chr18:13224400-13228400	Weak transcription	Lung	lung
21	chr18:13224400-13231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:13224400-13231200	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:13224400-13231600	Weak transcription	Brain Hippocampus Middle	brain
24	chr18:13224400-13232000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:13224400-13232000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:13224400-13232000	Weak transcription	Brain Substantia Nigra	brain
27	chr18:13224400-13232200	Weak transcription	Adipose Nuclei	Adipose
28	chr18:13224400-13232200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:13224400-13232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:13224400-13234000	Weak transcription	Pancreas	Pancrea
31	chr18:13224400-13234600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr18:13224400-13235400	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:13224400-13235600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:13224400-13242600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:13224400-13245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:13224400-13259800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr18:13224600-13228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:13224600-13228000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:13224600-13232000	Weak transcription	Brain Anterior Caudate	brain
40	chr18:13225000-13231200	Weak transcription	Fetal Lung	lung
41	chr18:13225400-13227800	Weak transcription	Right Ventricle	heart
42	chr18:13225400-13229200	Weak transcription	Brain Germinal Matrix	brain
43	chr18:13225400-13230400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr18:13225400-13232000	Weak transcription	Right Atrium	heart
45	chr18:13225600-13227200	Weak transcription	Dnd41	blood
46	chr18:13225600-13227800	Weak transcription	Primary T cells from cord blood	blood
47	chr18:13225600-13228000	Weak transcription	Left Ventricle	heart
48	chr18:13225600-13232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:13225800-13228000	Weak transcription	Fetal Heart	heart
50	chr18:13226400-13227200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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