Variant report

Variant	nsv470758
Chromosome Location	chr1:190456126-190510003
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:
2	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:
3	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:
4	chr1:190443878..190446178-chr1:190461343..190463264,2	K562	blood:
5	chr1:190456328..190457105-chr20:42218949..42219566,2	Hela-S3	cervix:
6	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-5	chr1:190462968-190463427	ENSG00000241505
2	lnc-RGS18-5	chr1:190462968-190463251	XLOC_000505

No data

Variant related genes	Relation type
ENSG00000162670	chromatin interactions
PRNP	miRNA target sites
PDLIM5	miRNA target sites

Extended variants
information (count: 329 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:329 , 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	rs7413242	chr1:190456285-190456286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545686444	chr1:190456327-190456328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562392844	chr1:190456332-190456333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141349434	chr1:190456360-190456361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541943530	chr1:190456369-190456370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561645257	chr1:190456407-190456408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527354323	chr1:190456436-190456437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556114532	chr1:190456449-190456450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547418727	chr1:190456459-190456460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11433171	chr1:190456555-190456556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200624130	chr1:190456556-190456557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574225527	chr1:190456570-190456571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564029483	chr1:190456613-190456614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116600403	chr1:190456614-190456615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571890492	chr1:190456644-190456645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550492542	chr1:190456647-190456648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539000288	chr1:190456710-190456711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199644819	chr1:190456711-190456712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74469341	chr1:190456716-190456717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202045376	chr1:190456719-190456720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368878433	chr1:190456720-190456721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368940272	chr1:190456782-190456783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75534873	chr1:190456819-190456820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535655327	chr1:190456842-190456843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193081676	chr1:190456900-190456901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578115143	chr1:190456922-190456923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566061247	chr1:190456925-190456926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111293836	chr1:190456934-190456935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138950852	chr1:190456947-190456948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542751955	chr1:190461373-190461374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189706906	chr1:190461382-190461383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116451769	chr1:190461404-190461405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181752444	chr1:190461481-190461482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75066042	chr1:190461514-190461515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185898276	chr1:190461523-190461524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548141779	chr1:190461560-190461561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568774435	chr1:190461566-190461567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534455985	chr1:190461632-190461633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75851472	chr1:190461661-190461662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190614387	chr1:190461671-190461672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539952352	chr1:190461677-190461678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182044889	chr1:190461757-190461758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375895434	chr1:190461782-190461783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539624777	chr1:190461826-190461827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577966582	chr1:190461834-190461835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs814932	chr1:190461862-190461863	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs814933	chr1:190461869-190461870	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574400489	chr1:190461990-190461991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186382341	chr1:190462151-190462152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190897044	chr1:190462153-190462154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190456200-190457000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:190463000-190463400	Enhancers	Gastric	stomach
3	chr1:190463600-190464200	Enhancers	Fetal Heart	heart
4	chr1:190480000-190480800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:190480200-190481600	Enhancers	Fetal Heart	heart
6	chr1:190480600-190481000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:190480600-190481000	Active TSS	Brain Anterior Caudate	brain
8	chr1:190480800-190481400	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:190501800-190502600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:190507400-190510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:190507800-190510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:190508200-190508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:190508200-190509600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:190508800-190509200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:190509200-190509600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:190509200-190509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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