Variant report

Variant	nsv914984
Chromosome Location	chr22:33848936-33907964
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	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
2	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:

Extended variants
information (count: 2582 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2582 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5994746	chr22:33848936-33848937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116835272	chr22:33848958-33848959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2267209	chr22:33848972-33848973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190473575	chr22:33849015-33849016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374634746	chr22:33849026-33849027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144719123	chr22:33849035-33849036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182210823	chr22:33849039-33849040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148528997	chr22:33849041-33849042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563083704	chr22:33849046-33849047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144438539	chr22:33849068-33849069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573463037	chr22:33849072-33849073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542093990	chr22:33849090-33849091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186797739	chr22:33849107-33849108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575357636	chr22:33849109-33849110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11703988	chr22:33849125-33849126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146604694	chr22:33849128-33849129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571241077	chr22:33849141-33849142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2267210	chr22:33849150-33849151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559415069	chr22:33849152-33849153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528370112	chr22:33849155-33849156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548418122	chr22:33849193-33849194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143855207	chr22:33849198-33849199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533813367	chr22:33849234-33849235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550737981	chr22:33849240-33849241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369218194	chr22:33849273-33849274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539092058	chr22:33849316-33849317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370578326	chr22:33849317-33849318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151145728	chr22:33849328-33849329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2267211	chr22:33849388-33849389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12158851	chr22:33849396-33849397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550428324	chr22:33849401-33849402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565645244	chr22:33849420-33849421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2267212	chr22:33849461-33849462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575392828	chr22:33849463-33849464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191807047	chr22:33849468-33849469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564287105	chr22:33849470-33849471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181366360	chr22:33849493-33849494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540302506	chr22:33849497-33849498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539865795	chr22:33849573-33849574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560501632	chr22:33849599-33849600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368581379	chr22:33849600-33849601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548383911	chr22:33849657-33849658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568126018	chr22:33849659-33849660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs5994747	chr22:33849662-33849663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369481122	chr22:33849701-33849702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374344008	chr22:33849716-33849717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76589798	chr22:33849719-33849720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144961634	chr22:33849720-33849721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566866746	chr22:33849758-33849759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142046384	chr22:33849764-33849765	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:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
2	chr22:33828200-33855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33828800-33857800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr22:33846800-33850200	Enhancers	Fetal Heart	heart
5	chr22:33848200-33849000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:33848200-33849000	Enhancers	Right Ventricle	heart
7	chr22:33848200-33849800	Enhancers	Left Ventricle	heart
8	chr22:33848400-33849000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:33848600-33850400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:33848600-33850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:33848600-33857000	Weak transcription	HepG2	liver
12	chr22:33848600-33860800	Weak transcription	Fetal Lung	lung
13	chr22:33849000-33851800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:33849800-33850200	Enhancers	Liver	Liver
15	chr22:33849800-33850800	Weak transcription	Left Ventricle	heart
16	chr22:33850200-33855600	Weak transcription	Fetal Heart	heart
17	chr22:33850800-33851400	Enhancers	Left Ventricle	heart
18	chr22:33851400-33855600	Weak transcription	Left Ventricle	heart
19	chr22:33852000-33852200	Enhancers	Pancreas	Pancrea
20	chr22:33852200-33860800	Weak transcription	Pancreas	Pancrea
21	chr22:33855000-33855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:33855000-33856200	Enhancers	Gastric	stomach
23	chr22:33855400-33857000	Enhancers	Stomach Mucosa	stomach
24	chr22:33855600-33856200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:33855600-33856600	Enhancers	Fetal Heart	heart
26	chr22:33855600-33856800	Enhancers	Right Ventricle	heart
27	chr22:33855600-33857000	Enhancers	Left Ventricle	heart
28	chr22:33855800-33856000	Enhancers	Ovary	ovary
29	chr22:33855800-33857200	Enhancers	Fetal Intestine Small	intestine
30	chr22:33856000-33863200	Weak transcription	Ovary	ovary
31	chr22:33856200-33857200	Enhancers	Fetal Intestine Large	intestine
32	chr22:33856600-33856800	Enhancers	Duodenum Mucosa	Duodenum
33	chr22:33856600-33857000	Flanking Active TSS	Fetal Heart	heart
34	chr22:33856800-33860800	Weak transcription	Right Ventricle	heart
35	chr22:33857000-33857400	Enhancers	Fetal Heart	heart
36	chr22:33857000-33857600	Enhancers	HepG2	liver
37	chr22:33857000-33860800	Weak transcription	Left Ventricle	heart
38	chr22:33857000-33860800	Weak transcription	Psoas Muscle	Psoas
39	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:33857400-33857800	Weak transcription	Fetal Heart	heart
41	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:33857800-33858200	ZNF genes & repeats	Fetal Heart	heart
43	chr22:33857800-33858400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr22:33858200-33860600	Weak transcription	Fetal Heart	heart
45	chr22:33858400-33861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:33860600-33862200	Enhancers	Fetal Heart	heart
47	chr22:33860800-33861000	Enhancers	Fetal Lung	lung
48	chr22:33860800-33861000	Enhancers	Pancreas	Pancrea
49	chr22:33860800-33861000	Enhancers	Psoas Muscle	Psoas
50	chr22:33860800-33862200	Enhancers	Brain Inferior Temporal Lobe	brain

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