Variant report

Variant	nsv1067480
Chromosome Location	chr22:33865381-33934464
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	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
2	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
3	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
4	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:
5	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
6	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
7	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
8	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3077 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3077 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140986632	chr22:33865396-33865397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184752058	chr22:33865408-33865409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569714924	chr22:33865410-33865411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547499718	chr22:33865414-33865415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148800505	chr22:33865415-33865416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114714552	chr22:33865469-33865470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559328706	chr22:33865577-33865578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111619563	chr22:33865594-33865595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572744193	chr22:33865616-33865617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146865807	chr22:33865637-33865638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73409018	chr22:33865664-33865665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375230165	chr22:33865675-33865676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5754569	chr22:33865680-33865681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375626320	chr22:33865697-33865698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112648260	chr22:33865711-33865712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563436642	chr22:33865758-33865759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143326084	chr22:33865768-33865769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368924028	chr22:33865813-33865814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562858694	chr22:33865814-33865815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527813997	chr22:33865827-33865828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374232193	chr22:33865841-33865842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537465362	chr22:33865873-33865874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569211768	chr22:33865939-33865940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545774699	chr22:33865944-33865945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564849750	chr22:33865969-33865970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527552830	chr22:33865971-33865972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147105720	chr22:33866036-33866037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188399184	chr22:33866079-33866080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137929673	chr22:33866122-33866123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549877157	chr22:33866125-33866126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569753566	chr22:33866218-33866219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538655290	chr22:33866231-33866232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4821150	chr22:33866241-33866242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78775519	chr22:33866246-33866247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535287567	chr22:33866325-33866326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554957714	chr22:33866334-33866335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575021011	chr22:33866362-33866363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180811806	chr22:33866436-33866437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149465253	chr22:33866450-33866451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143864479	chr22:33866502-33866503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148648705	chr22:33866505-33866506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559275578	chr22:33866634-33866635	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527600309	chr22:33866635-33866636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116463362	chr22:33866644-33866645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561003055	chr22:33866679-33866680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141630678	chr22:33866694-33866695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551267532	chr22:33866723-33866724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183680574	chr22:33866746-33866747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569790647	chr22:33866792-33866793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532200756	chr22:33866844-33866845	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:1021 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	chr22:33861800-33866200	Weak transcription	GM12878-XiMat	blood
6	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
8	chr22:33862200-33866400	Weak transcription	Fetal Heart	heart
9	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:33862400-33867600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:33863600-33872000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr22:33864000-33867400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:33864000-33868200	Weak transcription	Right Ventricle	heart
14	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
15	chr22:33864000-33888200	Weak transcription	Ovary	ovary
16	chr22:33864200-33866200	Weak transcription	HepG2	liver
17	chr22:33864200-33867600	Weak transcription	Psoas Muscle	Psoas
18	chr22:33864200-33868000	Weak transcription	NHDF-Ad	bronchial
19	chr22:33864200-33868200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:33864200-33872800	Weak transcription	Right Atrium	heart
21	chr22:33864400-33866600	Weak transcription	Left Ventricle	heart
22	chr22:33866200-33866400	Enhancers	GM12878-XiMat	blood
23	chr22:33866200-33868200	Enhancers	HepG2	liver
24	chr22:33866400-33868400	Enhancers	Fetal Heart	heart
25	chr22:33866400-33869200	Flanking Active TSS	GM12878-XiMat	blood
26	chr22:33866600-33866800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:33866600-33867200	Enhancers	Left Ventricle	heart
28	chr22:33866800-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:33867200-33870400	Weak transcription	Left Ventricle	heart
30	chr22:33867400-33868000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:33867600-33868000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr22:33867600-33869600	Enhancers	Psoas Muscle	Psoas
33	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr22:33868000-33868400	Enhancers	NHDF-Ad	bronchial
36	chr22:33868000-33868800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr22:33868000-33869000	Enhancers	HSMM	muscle
38	chr22:33868000-33872600	Weak transcription	Osteobl	bone
39	chr22:33868200-33868400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:33868200-33868400	Enhancers	Right Ventricle	heart
41	chr22:33868200-33869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:33868200-33869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:33868200-33869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:33868200-33869000	Enhancers	HSMMtube	muscle
45	chr22:33868200-33872000	Weak transcription	HepG2	liver
46	chr22:33868400-33868600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:33868400-33868600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr22:33868400-33868800	Enhancers	Colon Smooth Muscle	Colon
49	chr22:33868400-33868800	Flanking Active TSS	Fetal Heart	heart
50	chr22:33868400-33868800	Weak transcription	Right Ventricle	heart

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