Variant report

Variant	esv3456094
Chromosome Location	chr22:32701212-32701804
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	22:32694902-32708216..22:33452523-33459358	K562	blood:

Variant related genes	Relation type
ENSG00000185666	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192069295	chr22:32701227-32701228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577341317	chr22:32701239-32701240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546004728	chr22:32701245-32701246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4820074	chr22:32701277-32701278	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573178149	chr22:32701302-32701303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549912412	chr22:32701306-32701307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542165176	chr22:32701332-32701333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561927531	chr22:32701336-32701337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575603465	chr22:32701352-32701353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148174227	chr22:32701355-32701356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184041267	chr22:32701378-32701379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527742520	chr22:32701389-32701390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62241122	chr22:32701395-32701396	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188542471	chr22:32701397-32701398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113599201	chr22:32701399-32701400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147150765	chr22:32701435-32701436	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191669113	chr22:32701441-32701442	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537074236	chr22:32701464-32701465	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531800028	chr22:32701512-32701513	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550373329	chr22:32701517-32701518	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570515415	chr22:32701528-32701529	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539175049	chr22:32701549-32701550	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553147920	chr22:32701560-32701561	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182537950	chr22:32701584-32701585	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535712357	chr22:32701614-32701615	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373723728	chr22:32701616-32701617	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575521242	chr22:32701625-32701626	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544609396	chr22:32701626-32701627	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9609498	chr22:32701653-32701654	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs578126191	chr22:32701654-32701655	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371432035	chr22:32701667-32701668	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559575300	chr22:32701684-32701685	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528302901	chr22:32701689-32701690	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186911591	chr22:32701703-32701704	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191353313	chr22:32701707-32701708	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530750106	chr22:32701727-32701728	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551602667	chr22:32701731-32701732	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113389665	chr22:32701742-32701743	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142725195	chr22:32701757-32701758	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539138280	chr22:32701763-32701764	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9609499	chr22:32701770-32701771	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566676730	chr22:32701781-32701782	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147380483	chr22:32701797-32701798	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs62241123	chr22:32701799-32701800	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139133378	chr22:32701800-32701801	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149939086	chr22:32701803-32701804	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32696600-32704800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:32701400-32701800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:32701600-32701800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr22:32701600-32702000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:32701800-32702000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:32701800-32702000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links