Variant report

Variant	esv3354913
Chromosome Location	chr22:32609202-32610450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536604225	chr22:32609204-32609205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369757066	chr22:32609206-32609207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35425922	chr22:32609223-32609224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112104739	chr22:32609226-32609227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374198013	chr22:32609246-32609247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530387885	chr22:32609247-32609248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141540403	chr22:32609255-32609256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191747922	chr22:32609262-32609263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145297566	chr22:32609268-32609269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62239028	chr22:32609355-32609356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559974280	chr22:32609361-32609362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62239029	chr22:32609368-32609369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369791924	chr22:32609460-32609461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5998308	chr22:32609461-32609462	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs5998309	chr22:32609463-32609464	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs62239030	chr22:32609465-32609466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144362787	chr22:32609479-32609480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531366531	chr22:32609486-32609487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551473351	chr22:32609487-32609488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201485335	chr22:32609488-32609489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28454979	chr22:32609489-32609490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539383029	chr22:32609494-32609495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141716934	chr22:32609500-32609501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28754561	chr22:32609502-32609503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185711149	chr22:32609508-32609509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150571773	chr22:32609515-32609516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202090315	chr22:32609529-32609530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544984597	chr22:32609530-32609531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190126472	chr22:32609545-32609546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139611424	chr22:32609555-32609556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540871567	chr22:32609556-32609557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11914140	chr22:32609557-32609558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371034765	chr22:32609559-32609560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374196756	chr22:32609563-32609564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368380424	chr22:32609565-32609566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372554676	chr22:32609567-32609568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562967019	chr22:32609568-32609569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556848421	chr22:32609569-32609570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9606919	chr22:32609573-32609574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199917315	chr22:32609574-32609575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539042616	chr22:32609575-32609576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71184563	chr22:32609584-32609585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558590402	chr22:32609587-32609588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377441958	chr22:32609590-32609591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11914164	chr22:32609599-32609600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62239031	chr22:32609602-32609603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572216299	chr22:32609606-32609607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11914202	chr22:32609607-32609608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62239032	chr22:32609611-32609612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62239033	chr22:32609612-32609613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32600800-32622800	Weak transcription	Right Atrium	heart
2	chr22:32602200-32621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32603600-32625000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr22:32605000-32609600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:32606200-32614400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:32607800-32610000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:32607800-32612800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr22:32608200-32612800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr22:32609800-32621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:32610000-32613400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links