Variant report

Variant	esv2555193
Chromosome Location	chr20:29629361-29629361
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	chr20:29625984..29631616-chr9:68431406..68435615,4	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

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	rs371522260	chr20:29629361-29629362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:29613600-29630600	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:29618600-29629600	Weak transcription	Ovary	ovary
7	chr20:29621000-29630600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:29622000-29630600	Weak transcription	Stomach Mucosa	stomach
9	chr20:29622000-29630600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr20:29622400-29634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr20:29622800-29629600	Weak transcription	Esophagus	oesophagus
13	chr20:29622800-29629600	Weak transcription	Lung	lung
14	chr20:29622800-29630200	Weak transcription	Spleen	Spleen
15	chr20:29622800-29630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:29623000-29629600	Weak transcription	Gastric	stomach
17	chr20:29623000-29630600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr20:29623400-29634600	Weak transcription	Right Ventricle	heart
19	chr20:29623600-29630200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr20:29625200-29630600	Weak transcription	Colonic Mucosa	Colon
21	chr20:29625400-29632200	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr20:29625600-29629400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr20:29625800-29629800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
26	chr20:29626000-29629600	Strong transcription	Dnd41	blood
27	chr20:29626000-29630600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr20:29626600-29631200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:29626800-29629600	Weak transcription	HSMMtube	muscle
31	chr20:29626800-29630600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr20:29626800-29631800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr20:29627400-29632200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr20:29627600-29629400	Weak transcription	Pancreas	Pancrea
35	chr20:29627600-29629600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:29627600-29629600	Weak transcription	Fetal Stomach	stomach
37	chr20:29627600-29629600	Weak transcription	Thymus	Thymus
38	chr20:29627800-29633400	ZNF genes & repeats	NHDF-Ad	bronchial
39	chr20:29628000-29631600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr20:29628200-29631000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:29628400-29629400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:29628400-29629600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr20:29628400-29630800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:29628400-29631200	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr20:29628400-29631200	ZNF genes & repeats	Fetal Kidney	kidney
47	chr20:29628400-29631800	Strong transcription	Placenta	Placenta
48	chr20:29628400-29632000	ZNF genes & repeats	Fetal Lung	lung
49	chr20:29628400-29632200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr20:29628400-29633200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links