Variant report

Variant	esv3336544
Chromosome Location	chr1:195301529-195305927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180785916	chr1:195301542-195301543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186385145	chr1:195301584-195301585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533208514	chr1:195301612-195301613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1440957	chr1:195301670-195301671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534381245	chr1:195301710-195301711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112433692	chr1:195301769-195301770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114226786	chr1:195301823-195301824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564580497	chr1:195301828-195301829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190783532	chr1:195301898-195301899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567934820	chr1:195301919-195301920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559425529	chr1:195301944-195301945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377011493	chr1:195301953-195301954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535756672	chr1:195301955-195301956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72738443	chr1:195301961-195301962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575587823	chr1:195301976-195301977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539688940	chr1:195301983-195301984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557971786	chr1:195302037-195302038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573382703	chr1:195302079-195302080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546700128	chr1:195302101-195302102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139079713	chr1:195302106-195302107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149466337	chr1:195302135-195302136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143879275	chr1:195302149-195302150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568470133	chr1:195302227-195302228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182055012	chr1:195302244-195302245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74132816	chr1:195302252-195302253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551569659	chr1:195302422-195302423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372995221	chr1:195302429-195302430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560268370	chr1:195302476-195302477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528211270	chr1:195302502-195302503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546342471	chr1:195302586-195302587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568131399	chr1:195302630-195302631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535132133	chr1:195302676-195302677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186588012	chr1:195302702-195302703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191442490	chr1:195302743-195302744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12058463	chr1:195302745-195302746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550904338	chr1:195302752-195302753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376179768	chr1:195302768-195302769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557985777	chr1:195302771-195302772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183221250	chr1:195302799-195302800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148603798	chr1:195302815-195302816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371014324	chr1:195302831-195302832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12022395	chr1:195302846-195302847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144937293	chr1:195302858-195302859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147955207	chr1:195302878-195302879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187097293	chr1:195302929-195302930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556099145	chr1:195302937-195302938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566313649	chr1:195302965-195302966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114280278	chr1:195302973-195302974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560328282	chr1:195302988-195302989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530335926	chr1:195303051-195303052	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
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195299400-195306000	Weak transcription	Fetal Brain Male	brain
2	chr1:195304800-195305200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:195305200-195305600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:195305400-195305600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:195305400-195306800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:195305600-195305800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:195305600-195305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:195305600-195306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195305600-195306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:195305600-195306200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:195305600-195306400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:195305600-195306400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:195305600-195306400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:195305600-195306400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:195305600-195306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:195305600-195306800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:195305600-195307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:195305800-195306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:195305800-195306400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:195305800-195306400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:195305800-195306400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:195305800-195306400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:195305800-195307000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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