Variant report

Variant	esv3455806
Chromosome Location	chr22:33735981-33737061
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	chr22:33733629..33736334-chr22:33743159..33745695,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567184437	chr22:33736012-33736013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145563503	chr22:33736031-33736032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555968530	chr22:33736059-33736060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9680653	chr22:33736087-33736088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570810137	chr22:33736105-33736106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8139984	chr22:33736107-33736108	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111586951	chr22:33736141-33736142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370144180	chr22:33736179-33736180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537919850	chr22:33736312-33736313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57917413	chr22:33736315-33736316	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189230582	chr22:33736323-33736324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540650132	chr22:33736433-33736434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138099562	chr22:33736471-33736472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573129776	chr22:33736539-33736540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541764922	chr22:33736556-33736557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561816919	chr22:33736592-33736593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541145625	chr22:33736595-33736596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16992178	chr22:33736603-33736604	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113847893	chr22:33736610-33736611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550662956	chr22:33736621-33736622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs8135526	chr22:33736654-33736655	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532939499	chr22:33736676-33736677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146312002	chr22:33736677-33736678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567043599	chr22:33736705-33736706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78305335	chr22:33736762-33736763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73401481	chr22:33736765-33736766	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569073579	chr22:33736801-33736802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61242860	chr22:33736811-33736812	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533030571	chr22:33736812-33736813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138134503	chr22:33736846-33736847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386820813	chr22:33736868-33736869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58959950	chr22:33736869-33736870	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554092620	chr22:33736885-33736886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568138363	chr22:33736903-33736904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371511531	chr22:33736926-33736927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181858418	chr22:33736928-33736929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185345695	chr22:33736951-33736952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149601616	chr22:33736969-33736970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61531606	chr22:33736985-33736986	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547496859	chr22:33737044-33737045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79812642	chr22:33737049-33737050	Weak transcription Strong transcription Enhancers	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
Prostate cancer	22341455	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
4	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
8	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:33731200-33738800	Strong transcription	Fetal Stomach	stomach
11	chr22:33731200-33746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:33732200-33746600	Weak transcription	Fetal Intestine Large	intestine
15	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
16	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
17	chr22:33732800-33750400	Weak transcription	Liver	Liver
18	chr22:33733600-33737800	Weak transcription	Adipose Nuclei	Adipose
19	chr22:33733600-33741400	Weak transcription	Fetal Heart	heart
20	chr22:33733600-33744600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:33733600-33745000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:33733800-33736400	Weak transcription	Lung	lung
23	chr22:33733800-33736800	Weak transcription	Fetal Brain Female	brain
24	chr22:33733800-33737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:33733800-33738400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:33733800-33739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:33733800-33745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:33733800-33746800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:33733800-33751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:33733800-33754000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:33734000-33741000	Weak transcription	Fetal Intestine Small	intestine
33	chr22:33734000-33754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
35	chr22:33734200-33736000	Weak transcription	GM12878-XiMat	blood
36	chr22:33734200-33736200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr22:33734200-33736400	Weak transcription	Stomach Mucosa	stomach
38	chr22:33734200-33744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:33734200-33745000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:33734200-33745000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:33734200-33745200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:33734400-33737000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:33734400-33739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:33734400-33757400	Weak transcription	Gastric	stomach
45	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:33734800-33737600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:33734800-33750600	Weak transcription	Spleen	Spleen
49	chr22:33735200-33738000	Enhancers	HepG2	liver
50	chr22:33735600-33746600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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