Variant report

Variant	nsv947352
Chromosome Location	chr1:190184771-190195175
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	chr1:190191940..190193562-chr1:190194974..190197595,2	K562	blood:

Variant related genes	Relation type
ENSG00000162670	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568078090	chr1:190184845-190184846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35154584	chr1:190184848-190184849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367625746	chr1:190184857-190184858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368226445	chr1:190184861-190184862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375500654	chr1:190184872-190184873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145471207	chr1:190184873-190184874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547701968	chr1:190184927-190184928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570770377	chr1:190184935-190184936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539649146	chr1:190184942-190184943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556762646	chr1:190184978-190184979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531723331	chr1:190185025-190185026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550313721	chr1:190185102-190185103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147684645	chr1:190185125-190185126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72729169	chr1:190185133-190185134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551933756	chr1:190185158-190185159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141370291	chr1:190185167-190185168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541401729	chr1:190185193-190185194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554115489	chr1:190185223-190185224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191832457	chr1:190185238-190185239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545772159	chr1:190185259-190185260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562741082	chr1:190185276-190185277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531385337	chr1:190185280-190185281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182458640	chr1:190185285-190185286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561594822	chr1:190185299-190185300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552285820	chr1:190185352-190185353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539005007	chr1:190185366-190185367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546941896	chr1:190185382-190185383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76143719	chr1:190185422-190185423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533485983	chr1:190185489-190185490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550190096	chr1:190185492-190185493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114582417	chr1:190185519-190185520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535643113	chr1:190185526-190185527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555843580	chr1:190185577-190185578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114999754	chr1:190185613-190185614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535017169	chr1:190185638-190185639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558225714	chr1:190185663-190185664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578060082	chr1:190185692-190185693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546110124	chr1:190185696-190185697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185209704	chr1:190185697-190185698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556158272	chr1:190185705-190185706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576202417	chr1:190185738-190185739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541620051	chr1:190185751-190185752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573050718	chr1:190185771-190185772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561452402	chr1:190185790-190185791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143540139	chr1:190185898-190185899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540715058	chr1:190185905-190185906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189966942	chr1:190185906-190185907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533748721	chr1:190185956-190185957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550470865	chr1:190185996-190185997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570216335	chr1:190186040-190186041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190171400-190188000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190188000-190188200	ZNF genes & repeats	Fetal Intestine Large	intestine
3	chr1:190188200-190190800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:190193400-190195800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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