Variant report

Variant	esv1960022
Chromosome Location	chr18:12473308-12473309
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	chr18:12457149..12459237-chr18:12472773..12475117,2	K562	blood:
2	chr18:12466910..12468517-chr18:12473202..12476179,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565115334	chr18:12473308-12473309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
3	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:12449600-12477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12449800-12477600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:12449800-12477600	Weak transcription	Spleen	Spleen
8	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12449800-12478000	Weak transcription	Gastric	stomach
10	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:12450000-12478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
14	chr18:12456800-12477400	Weak transcription	Fetal Kidney	kidney
15	chr18:12457800-12477600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:12459600-12477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12459600-12478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12460200-12478200	Weak transcription	NH-A	brain
19	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:12460400-12477600	Weak transcription	Lung	lung
21	chr18:12460400-12478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:12461200-12478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:12461400-12477600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:12461600-12477600	Weak transcription	Liver	Liver
27	chr18:12461800-12477600	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:12461800-12478200	Weak transcription	HepG2	liver
29	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:12463200-12477600	Weak transcription	NHLF	lung
31	chr18:12463400-12477000	Weak transcription	Fetal Lung	lung
32	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
34	chr18:12463600-12477000	Weak transcription	Placenta	Placenta
35	chr18:12464200-12474200	Weak transcription	HUVEC	blood vessel
36	chr18:12465000-12474800	Weak transcription	Osteobl	bone
37	chr18:12465000-12477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
39	chr18:12465200-12477600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:12465200-12477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:12465400-12475000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:12465400-12477000	Weak transcription	Left Ventricle	heart
43	chr18:12465400-12477000	Weak transcription	HSMMtube	muscle
44	chr18:12465400-12477600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:12465400-12477600	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12465400-12477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:12465400-12478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:12465600-12477200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
50	chr18:12465800-12474200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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