Variant report

Variant	esv3369902
Chromosome Location	chr18:29121704-29122029
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	chr18:29076759..29079471-chr18:29120956..29123046,2	K562	blood:
2	chr18:29076759..29079686-chr18:29120619..29123046,2	K562	blood:

Variant related genes	Relation type
ENSG00000046604	chromatin interactions
ENSG00000266521	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567630936	chr18:29121716-29121717	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148567745	chr18:29121725-29121726	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142922889	chr18:29121746-29121747	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571779946	chr18:29121747-29121748	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3829628	chr18:29121763-29121764	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs73954610	chr18:29121829-29121830	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575374814	chr18:29121838-29121839	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188851574	chr18:29121868-29121869	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554455987	chr18:29121869-29121870	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572476916	chr18:29121888-29121889	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1626261	chr18:29121896-29121897	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs118108358	chr18:29121930-29121931	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140092015	chr18:29121941-29121942	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532223485	chr18:29121970-29121971	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115224914	chr18:29121986-29121987	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563892133	chr18:29122029-29122030	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29096800-29121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:29097200-29129400	Weak transcription	Small Intestine	intestine
4	chr18:29097600-29128000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:29098200-29127600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:29098600-29127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:29099400-29127400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:29099400-29128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:29099600-29127400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:29099600-29128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
13	chr18:29103400-29128200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:29105200-29127600	Weak transcription	Fetal Heart	heart
15	chr18:29110600-29121800	Strong transcription	Hela-S3	cervix
16	chr18:29110800-29123200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:29111000-29127200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr18:29111000-29127400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:29113000-29123800	Strong transcription	Fetal Intestine Small	intestine
20	chr18:29113600-29126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:29114400-29123600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr18:29114600-29127400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:29114800-29124000	Strong transcription	Fetal Intestine Large	intestine
24	chr18:29115200-29127200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:29115600-29123400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr18:29116200-29123400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr18:29116400-29124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:29117000-29121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:29117000-29136000	Weak transcription	A549	lung
30	chr18:29117800-29122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:29118000-29123200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr18:29118000-29127400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr18:29118000-29127600	Strong transcription	NHEK	skin
34	chr18:29118200-29123600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:29118400-29123400	Strong transcription	Fetal Lung	lung
36	chr18:29118400-29123400	Strong transcription	Thymus	Thymus
37	chr18:29118400-29123400	Strong transcription	K562	blood
38	chr18:29118400-29124400	Strong transcription	HMEC	breast
39	chr18:29118400-29126800	Strong transcription	GM12878-XiMat	blood
40	chr18:29118600-29123400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:29118600-29123400	Strong transcription	Ovary	ovary
42	chr18:29118600-29123600	Strong transcription	Placenta	Placenta
43	chr18:29118600-29123800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:29118800-29123200	Strong transcription	Gastric	stomach
45	chr18:29118800-29123400	Strong transcription	Left Ventricle	heart
46	chr18:29118800-29123400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:29119000-29123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:29119200-29123000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:29119400-29123400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr18:29119400-29123400	Strong transcription	HepG2	liver

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