Variant report

Variant	esv3317599
Chromosome Location	chr18:28823127-28823210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:28821484..28823254-chr18:29002472..29004133,2	K562	blood:
2	chr18:28821250..28823567-chr18:28859683..28862005,2	MCF-7	breast:
3	chr18:28680633..28683180-chr18:28821248..28824915,4	MCF-7	breast:
4	chr18:28736989..28739079-chr18:28820985..28823154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134755	chromatin interactions
ENSG00000265888	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556277315	chr18:28823145-28823146	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529263343	chr18:28823160-28823161	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576646239	chr18:28823161-28823162	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139040369	chr18:28823164-28823165	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563086055	chr18:28823171-28823172	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11659665	chr18:28823180-28823181	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114338500	chr18:28823193-28823194	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28820200-28826000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:28820400-28823800	Enhancers	HepG2	liver
3	chr18:28820400-28824800	Enhancers	HMEC	breast
4	chr18:28820600-28824600	Enhancers	Fetal Intestine Large	intestine
5	chr18:28820600-28824600	Enhancers	Fetal Intestine Small	intestine
6	chr18:28820600-28828000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:28820800-28823600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:28820800-28826200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:28821200-28823800	Enhancers	Liver	Liver
10	chr18:28821200-28824800	Enhancers	Stomach Mucosa	stomach
11	chr18:28821200-28826000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:28821400-28823800	Weak transcription	Pancreas	Pancrea
13	chr18:28821400-28823800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:28821400-28824800	Enhancers	Fetal Kidney	kidney
15	chr18:28821400-28825200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:28821600-28823600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:28821600-28823800	Weak transcription	Small Intestine	intestine
18	chr18:28822000-28824000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:28822200-28823600	Weak transcription	Left Ventricle	heart
20	chr18:28822200-28823600	Weak transcription	GM12878-XiMat	blood
21	chr18:28822200-28823800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:28822200-28823800	Weak transcription	Placenta	Placenta
23	chr18:28822200-28824400	Weak transcription	NH-A	brain
24	chr18:28822200-28824600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:28822200-28826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:28822400-28823600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:28822400-28823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:28822400-28824000	Enhancers	A549	lung
29	chr18:28822400-28824600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr18:28822600-28823200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr18:28822600-28823600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:28822600-28823600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:28822600-28823600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:28822600-28823600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr18:28822600-28823800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:28822600-28823800	Enhancers	Duodenum Mucosa	Duodenum
37	chr18:28822600-28823800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:28822600-28823800	Enhancers	NHEK	skin
39	chr18:28822600-28824600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:28822800-28823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:28822800-28823800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:28822800-28823800	Weak transcription	Hela-S3	cervix
43	chr18:28822800-28824200	Weak transcription	Fetal Lung	lung
44	chr18:28822800-28824600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr18:28823000-28823800	Enhancers	HUVEC	blood vessel
46	chr18:28823000-28824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:28823200-28823600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr18:28823200-28826000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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