Variant report

Variant	esv3456836
Chromosome Location	chr22:32798339-32798815
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	chr22:32791211..32793913-chr22:32796034..32798432,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5998474	chr22:32798343-32798344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187759662	chr22:32798367-32798368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11089563	chr22:32798382-32798383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147763334	chr22:32798432-32798433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530870925	chr22:32798442-32798443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550139561	chr22:32798457-32798458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141152381	chr22:32798459-32798460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564959147	chr22:32798472-32798473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561671493	chr22:32798476-32798477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539064334	chr22:32798491-32798492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530670919	chr22:32798506-32798507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574903793	chr22:32798523-32798524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535661314	chr22:32798549-32798550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201728414	chr22:32798553-32798554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146953878	chr22:32798565-32798566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5754069	chr22:32798571-32798572	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs5754070	chr22:32798585-32798586	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558500459	chr22:32798597-32798598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578040240	chr22:32798598-32798599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540633177	chr22:32798602-32798603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560567450	chr22:32798612-32798613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529430337	chr22:32798639-32798640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143108528	chr22:32798648-32798649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148249384	chr22:32798668-32798669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530008747	chr22:32798671-32798672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530639964	chr22:32798708-32798709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546848300	chr22:32798730-32798731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566525741	chr22:32798737-32798738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550425902	chr22:32798738-32798739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571904633	chr22:32798743-32798744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2049946	chr22:32798759-32798760	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190976150	chr22:32798764-32798765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32799200	Strong transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:32781200-32801200	Strong transcription	Fetal Stomach	stomach
5	chr22:32781200-32802200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr22:32781200-32803200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr22:32781200-32804000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr22:32781200-32804200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr22:32781200-32804600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:32781200-32804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:32781200-32804800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
14	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:32781400-32799200	Strong transcription	Lung	lung
16	chr22:32781400-32801200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:32781400-32802600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr22:32781400-32802600	Strong transcription	GM12878-XiMat	blood
19	chr22:32781400-32802600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:32781400-32803200	Strong transcription	Adipose Nuclei	Adipose
21	chr22:32781400-32803200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr22:32781400-32803600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr22:32781400-32803800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:32781400-32803800	Strong transcription	Liver	Liver
25	chr22:32781400-32804400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr22:32781400-32804600	Strong transcription	Fetal Thymus	thymus
27	chr22:32781400-32804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:32781400-32804600	Strong transcription	Dnd41	blood
29	chr22:32781400-32804800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:32781400-32804800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr22:32781400-32804800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:32781400-32804800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:32781400-32805000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:32781400-32805000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:32781400-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:32781400-32805000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:32781400-32805000	Strong transcription	Fetal Intestine Large	intestine
38	chr22:32781400-32805000	Strong transcription	Fetal Lung	lung
39	chr22:32781400-32805000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr22:32781400-32805000	Strong transcription	Left Ventricle	heart
41	chr22:32781400-32805000	Strong transcription	Osteobl	bone
42	chr22:32781400-32805200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:32781400-32805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
47	chr22:32781600-32804800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:32781600-32804800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:32781600-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:32781600-32805000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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