Variant report

Variant	nsv8646
Chromosome Location	chr1:195807375-195816521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
2	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
3	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 92 )

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	rs137988904	chr1:195807399-195807400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574052548	chr1:195807424-195807425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538266832	chr1:195807489-195807490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4488010	chr1:195807493-195807494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs578025249	chr1:195807515-195807516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545530068	chr1:195807535-195807536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541564336	chr1:195807561-195807562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564076975	chr1:195807594-195807595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142007375	chr1:195807621-195807622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540101561	chr1:195807622-195807623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76371890	chr1:195807638-195807639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529177252	chr1:195807639-195807640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6699302	chr1:195807654-195807655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs150084688	chr1:195807660-195807661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186236798	chr1:195807662-195807663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373864391	chr1:195807684-195807685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551460278	chr1:195807689-195807690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556294828	chr1:195807746-195807747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566910999	chr1:195807748-195807749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534423439	chr1:195807814-195807815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549672591	chr1:195807817-195807818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567940454	chr1:195807841-195807842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6691116	chr1:195807866-195807867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12086305	chr1:195807874-195807875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35830109	chr1:195807877-195807878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577971900	chr1:195807909-195807910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190648742	chr1:195807916-195807917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554254042	chr1:195807940-195807941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112670639	chr1:195807945-195807946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565409197	chr1:195808009-195808010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564389991	chr1:195808015-195808016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571890454	chr1:195808039-195808040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6691119	chr1:195808069-195808070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555175897	chr1:195808096-195808097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546771126	chr1:195808131-195808132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544148045	chr1:195808140-195808141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560843491	chr1:195808152-195808153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201147609	chr1:195808154-195808155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111434567	chr1:195808163-195808164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199744763	chr1:195808164-195808165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72560514	chr1:195808165-195808166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56048622	chr1:195808166-195808167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202014898	chr1:195808174-195808175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200164320	chr1:195808175-195808176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138358515	chr1:195808243-195808244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548658442	chr1:195808260-195808261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6702353	chr1:195808269-195808270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs537415516	chr1:195808274-195808275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4631670	chr1:195808366-195808367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560218328	chr1:195808393-195808394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195806600-195807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:195806800-195808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:195812400-195814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:195813000-195813200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:195813200-195814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:195814000-195814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:195814000-195814800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:195814000-195815600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195814200-195814400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
10	chr1:195814200-195815400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:195814400-195817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:195814600-195814800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:195814600-195814800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:195814800-195815000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:195814800-195815200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:195814800-195815400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:195814800-195815800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:195814800-195818400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:195815000-195815200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:195815000-195817800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:195815200-195815400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:195815200-195817600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:195815400-195815600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:195815400-195816400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:195815400-195817600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:195815600-195815800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:195815600-195816400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:195815800-195816200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:195815800-195817600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:195815800-195818000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:195816000-195817400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:195816200-195817800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:195816400-195816600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:195816400-195816800	Active TSS	HUES64 Cell Line	embryonic stem cell

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