Variant report

Variant	nsv1066694
Chromosome Location	chr22:33868123-33928973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 2688 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561485017	chr22:33868127-33868128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527388300	chr22:33868133-33868134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530415780	chr22:33868141-33868142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550908717	chr22:33868250-33868251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570795014	chr22:33868299-33868300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533365324	chr22:33868300-33868301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76980158	chr22:33868301-33868302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373540793	chr22:33868332-33868333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541027292	chr22:33868349-33868350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566961025	chr22:33868355-33868356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561492943	chr22:33868396-33868397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376984033	chr22:33868403-33868404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535540537	chr22:33868421-33868422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377203264	chr22:33868434-33868435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373099599	chr22:33868453-33868454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146471587	chr22:33868525-33868526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77143316	chr22:33868538-33868539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147934721	chr22:33868589-33868590	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181498244	chr22:33868598-33868599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557324579	chr22:33868601-33868602	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73409026	chr22:33868602-33868603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112978771	chr22:33868607-33868608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185397954	chr22:33868623-33868624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552843826	chr22:33868689-33868690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572902499	chr22:33868705-33868706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374188449	chr22:33868724-33868725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs9609808	chr22:33868733-33868734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529381795	chr22:33868744-33868745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563999099	chr22:33868750-33868751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541599811	chr22:33868756-33868757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561818387	chr22:33868771-33868772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530457431	chr22:33868807-33868808	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73409028	chr22:33868817-33868818	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7284282	chr22:33868829-33868830	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189979102	chr22:33868838-33868839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs5994754	chr22:33868844-33868845	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566991825	chr22:33868883-33868884	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182275661	chr22:33868899-33868900	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200614425	chr22:33868902-33868903	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373243760	chr22:33868913-33868914	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569360899	chr22:33868954-33868955	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs117775408	chr22:33868956-33868957	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531637448	chr22:33868962-33868963	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547050583	chr22:33868973-33868974	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186472756	chr22:33868996-33868997	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539705393	chr22:33869011-33869012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553224720	chr22:33869013-33869014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147082746	chr22:33869022-33869023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112318214	chr22:33869074-33869075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373250504	chr22:33869083-33869084	Weak transcription Enhancers Flanking Active TSS	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:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:33861400-33868800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
7	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:33863600-33872000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr22:33864000-33868200	Weak transcription	Right Ventricle	heart
10	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
11	chr22:33864000-33888200	Weak transcription	Ovary	ovary
12	chr22:33864200-33868200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:33864200-33872800	Weak transcription	Right Atrium	heart
14	chr22:33866200-33868200	Enhancers	HepG2	liver
15	chr22:33866400-33868400	Enhancers	Fetal Heart	heart
16	chr22:33866400-33869200	Flanking Active TSS	GM12878-XiMat	blood
17	chr22:33866800-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:33867200-33870400	Weak transcription	Left Ventricle	heart
19	chr22:33867600-33869600	Enhancers	Psoas Muscle	Psoas
20	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr22:33868000-33868400	Enhancers	NHDF-Ad	bronchial
23	chr22:33868000-33868800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr22:33868000-33869000	Enhancers	HSMM	muscle
25	chr22:33868000-33872600	Weak transcription	Osteobl	bone
26	chr22:33868200-33868400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:33868200-33868400	Enhancers	Right Ventricle	heart
28	chr22:33868200-33869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33868200-33869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:33868200-33869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:33868200-33869000	Enhancers	HSMMtube	muscle
32	chr22:33868200-33872000	Weak transcription	HepG2	liver
33	chr22:33868400-33868600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:33868400-33868600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr22:33868400-33868800	Enhancers	Colon Smooth Muscle	Colon
36	chr22:33868400-33868800	Flanking Active TSS	Fetal Heart	heart
37	chr22:33868400-33868800	Weak transcription	Right Ventricle	heart
38	chr22:33868400-33869000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr22:33868400-33871000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:33868400-33872400	Weak transcription	NHDF-Ad	bronchial
41	chr22:33868600-33868800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr22:33868600-33869200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr22:33868800-33869000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:33868800-33869000	Enhancers	Aorta	Aorta
45	chr22:33868800-33869000	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:33868800-33869000	Enhancers	Right Ventricle	heart
47	chr22:33868800-33869000	Enhancers	Stomach Smooth Muscle	stomach
48	chr22:33868800-33869200	Enhancers	Fetal Heart	heart
49	chr22:33868800-33869600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr22:33868800-33872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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