Variant report

Variant	nsv1063275
Chromosome Location	chr22:33847076-33934464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
2	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
3	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
4	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
5	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
6	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
7	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:
8	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3926 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3926 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8140002	chr22:33847076-33847077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556098713	chr22:33847093-33847094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80014381	chr22:33847143-33847144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573847876	chr22:33847178-33847179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542438823	chr22:33847179-33847180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528744895	chr22:33847192-33847193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186801979	chr22:33847201-33847202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148851370	chr22:33847213-33847214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575757328	chr22:33847237-33847238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143476343	chr22:33847274-33847275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8141384	chr22:33847286-33847287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12160505	chr22:33847290-33847291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117031189	chr22:33847291-33847292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561655294	chr22:33847292-33847293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530312904	chr22:33847304-33847305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148038101	chr22:33847307-33847308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562006810	chr22:33847309-33847310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10629325	chr22:33847337-33847338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35008903	chr22:33847338-33847339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397758515	chr22:33847358-33847359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs8140538	chr22:33847365-33847366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539137717	chr22:33847375-33847376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540675433	chr22:33847385-33847386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566030540	chr22:33847412-33847413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200466584	chr22:33847416-33847417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143597856	chr22:33847422-33847423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529198753	chr22:33847446-33847447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372904177	chr22:33847468-33847469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573911473	chr22:33847512-33847513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536104069	chr22:33847527-33847528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569276716	chr22:33847533-33847534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375908747	chr22:33847542-33847543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34445472	chr22:33847549-33847550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72265592	chr22:33847550-33847551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555946493	chr22:33847557-33847558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74380502	chr22:33847563-33847564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369635401	chr22:33847574-33847575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575794663	chr22:33847617-33847618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113792671	chr22:33847625-33847626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565040279	chr22:33847647-33847648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572026122	chr22:33847676-33847677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62225312	chr22:33847691-33847692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183400381	chr22:33847692-33847693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530445231	chr22:33847693-33847694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35698685	chr22:33847711-33847712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550450556	chr22:33847733-33847734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187818512	chr22:33847750-33847751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569087879	chr22:33847779-33847780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373774785	chr22:33847786-33847787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532794535	chr22:33847787-33847788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
2	chr22:33828200-33848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33828200-33855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33828800-33857800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr22:33833800-33848200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:33834200-33848200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33834200-33848400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33834600-33848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:33834800-33848200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33839400-33848200	Weak transcription	Right Atrium	heart
11	chr22:33842400-33847400	Weak transcription	HepG2	liver
12	chr22:33843600-33848200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:33844200-33848200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33846800-33847200	Enhancers	Left Ventricle	heart
15	chr22:33846800-33847200	Enhancers	Right Ventricle	heart
16	chr22:33846800-33850200	Enhancers	Fetal Heart	heart
17	chr22:33847200-33848200	Weak transcription	Left Ventricle	heart
18	chr22:33847200-33848200	Weak transcription	Right Ventricle	heart
19	chr22:33847400-33848600	Enhancers	HepG2	liver
20	chr22:33848200-33848600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:33848200-33848600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:33848200-33848600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr22:33848200-33848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:33848200-33848600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr22:33848200-33848600	Enhancers	Fetal Lung	lung
26	chr22:33848200-33848600	Enhancers	Right Atrium	heart
27	chr22:33848200-33848600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:33848200-33848800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:33848200-33848800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr22:33848200-33849000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr22:33848200-33849000	Enhancers	Right Ventricle	heart
32	chr22:33848200-33849800	Enhancers	Left Ventricle	heart
33	chr22:33848400-33849000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr22:33848600-33850400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr22:33848600-33850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:33848600-33857000	Weak transcription	HepG2	liver
37	chr22:33848600-33860800	Weak transcription	Fetal Lung	lung
38	chr22:33849000-33851800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:33849800-33850200	Enhancers	Liver	Liver
40	chr22:33849800-33850800	Weak transcription	Left Ventricle	heart
41	chr22:33850200-33855600	Weak transcription	Fetal Heart	heart
42	chr22:33850800-33851400	Enhancers	Left Ventricle	heart
43	chr22:33851400-33855600	Weak transcription	Left Ventricle	heart
44	chr22:33852000-33852200	Enhancers	Pancreas	Pancrea
45	chr22:33852200-33860800	Weak transcription	Pancreas	Pancrea
46	chr22:33855000-33855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:33855000-33856200	Enhancers	Gastric	stomach
48	chr22:33855400-33857000	Enhancers	Stomach Mucosa	stomach
49	chr22:33855600-33856200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:33855600-33856600	Enhancers	Fetal Heart	heart

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