Variant report

Variant	esv3409488
Chromosome Location	chr22:33750902-33752800
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	chr22:33746224..33749139-chr22:33750199..33751846,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183226525	chr22:33750906-33750907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8136349	chr22:33750921-33750922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556569789	chr22:33750923-33750924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187548402	chr22:33750980-33750981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5998890	chr22:33751046-33751047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4820102	chr22:33751062-33751063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4821143	chr22:33751067-33751068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140642331	chr22:33751085-33751086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561397466	chr22:33751089-33751090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369168860	chr22:33751107-33751108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144490205	chr22:33751139-33751140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543843026	chr22:33751155-33751156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563533269	chr22:33751160-33751161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77075438	chr22:33751183-33751184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551287094	chr22:33751217-33751218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564719089	chr22:33751219-33751220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527519138	chr22:33751301-33751302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544351746	chr22:33751339-33751340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192128845	chr22:33751387-33751388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567401789	chr22:33751390-33751391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184329811	chr22:33751391-33751392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12159445	chr22:33751394-33751395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549709809	chr22:33751437-33751438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545621046	chr22:33751447-33751448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569564896	chr22:33751504-33751505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539310739	chr22:33751508-33751509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559105439	chr22:33751520-33751521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372500657	chr22:33751546-33751547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376759995	chr22:33751603-33751604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375229558	chr22:33751615-33751616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs67957134	chr22:33751618-33751619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535272054	chr22:33751627-33751628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554759671	chr22:33751628-33751629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574826084	chr22:33751671-33751672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528576539	chr22:33751682-33751683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117277666	chr22:33751714-33751715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187887552	chr22:33751717-33751718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28582723	chr22:33751737-33751738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs116704674	chr22:33751744-33751745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117699767	chr22:33751747-33751748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111278267	chr22:33751756-33751757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs5754533	chr22:33751778-33751779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs5994721	chr22:33751862-33751863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2283895	chr22:33751863-33751864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs5994722	chr22:33751892-33751893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192777789	chr22:33751902-33751903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569610709	chr22:33751915-33751916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142356715	chr22:33751945-33751946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552893306	chr22:33751981-33751982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566420109	chr22:33752007-33752008	Weak 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
2	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
6	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
7	chr22:33733800-33751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:33733800-33754000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:33734000-33754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
12	chr22:33734400-33757400	Weak transcription	Gastric	stomach
13	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:33735600-33754400	Weak transcription	Ovary	ovary
16	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:33746400-33759000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:33746800-33757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:33746800-33761400	Weak transcription	Fetal Intestine Small	intestine
20	chr22:33747000-33754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:33747000-33756400	Weak transcription	Fetal Stomach	stomach
22	chr22:33747200-33754000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:33747200-33755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr22:33747200-33757400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:33747400-33755800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:33747400-33758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:33747400-33762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:33747400-33768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:33748200-33766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:33749000-33751200	Enhancers	Fetal Heart	heart
32	chr22:33749000-33755800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:33749600-33751600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:33750000-33751400	Enhancers	A549	lung
35	chr22:33750000-33752000	Enhancers	Osteobl	bone
36	chr22:33750200-33751200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:33750200-33752200	Weak transcription	Left Ventricle	heart
38	chr22:33750400-33751600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr22:33750400-33751800	Enhancers	Liver	Liver
40	chr22:33750800-33751600	Enhancers	HepG2	liver
41	chr22:33751000-33751400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:33751200-33751400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:33751200-33751400	Flanking Active TSS	Fetal Heart	heart
44	chr22:33751200-33751600	Enhancers	Aorta	Aorta
45	chr22:33751200-33751600	Enhancers	HSMM	muscle
46	chr22:33751200-33751600	Enhancers	HSMMtube	muscle
47	chr22:33751200-33751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:33751400-33751600	Enhancers	Fetal Heart	heart
49	chr22:33751400-33763800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:33751400-33765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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