Variant report

Variant	nsv947347
Chromosome Location	chr1:188815313-188835938
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	chr1:188788862..188791265-chr1:188817309..188819818,2	MCF-7	breast:

Extended variants
information (count: 222 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570566195	chr1:188815328-188815329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564724615	chr1:188815352-188815353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146372090	chr1:188815370-188815371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111991090	chr1:188815416-188815417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185878398	chr1:188815499-188815500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368133442	chr1:188815505-188815506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372014513	chr1:188815531-188815532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78619350	chr1:188815532-188815533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374964944	chr1:188815554-188815555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560023042	chr1:188815571-188815572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114643990	chr1:188815577-188815578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548388776	chr1:188815583-188815584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563400080	chr1:188815590-188815591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115627903	chr1:188815592-188815593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534859774	chr1:188815617-188815618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554045103	chr1:188815629-188815630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139675047	chr1:188815645-188815646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116124357	chr1:188815741-188815742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530913615	chr1:188815755-188815756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577584509	chr1:188815759-188815760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574040856	chr1:188815760-188815761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144522372	chr1:188815774-188815775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187572536	chr1:188815778-188815779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552683261	chr1:188815791-188815792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113378952	chr1:188815805-188815806	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77273477	chr1:188815806-188815807	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545628618	chr1:188815826-188815827	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79381789	chr1:188815828-188815829	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533055411	chr1:188815829-188815830	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549873863	chr1:188815836-188815837	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs151108700	chr1:188815844-188815845	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183992470	chr1:188815860-188815861	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548990959	chr1:188815872-188815873	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188772422	chr1:188815909-188815910	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534570122	chr1:188815911-188815912	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7526251	chr1:188815928-188815929	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571322206	chr1:188815962-188815963	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181378536	chr1:188815966-188815967	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557058496	chr1:188815974-188815975	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139693355	chr1:188815995-188815996	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542651675	chr1:188816000-188816001	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs114253099	chr1:188819638-188819639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569879553	chr1:188819657-188819658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148808186	chr1:188819683-188819684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547907975	chr1:188819742-188819743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192835056	chr1:188819797-188819798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185219419	chr1:188819812-188819813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553488109	chr1:188819840-188819841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116435372	chr1:188819850-188819851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542707426	chr1:188819865-188819866	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188813000-188815600	Weak transcription	Pancreas	Pancrea
2	chr1:188815600-188816000	ZNF genes & repeats	Pancreas	Pancrea
3	chr1:188815800-188816000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:188819600-188820400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:188820400-188821400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:188820600-188820800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:188823800-188824200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:188823800-188824600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:188824200-188824600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:188826600-188826800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:188826600-188827000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:188826600-188827200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:188826800-188827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:188827000-188827200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:188835000-188835400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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