Variant report

Variant	esv3338319
Chromosome Location	chr1:197773129-197777427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs28768500	chr1:197773160-197773161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371013016	chr1:197773234-197773235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12747001	chr1:197773267-197773268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12760440	chr1:197773277-197773278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61830597	chr1:197773279-197773280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12747010	chr1:197773281-197773282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554605732	chr1:197773283-197773284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60495815	chr1:197773361-197773362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576158860	chr1:197773375-197773376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543648648	chr1:197773516-197773517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186919101	chr1:197773563-197773564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141105006	chr1:197773574-197773575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191765193	chr1:197773578-197773579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185031739	chr1:197773625-197773626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61830598	chr1:197773646-197773647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549218769	chr1:197773658-197773659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561387546	chr1:197773667-197773668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531711731	chr1:197773674-197773675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550392671	chr1:197773690-197773691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571734410	chr1:197773694-197773695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372322696	chr1:197773714-197773715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7526456	chr1:197773734-197773735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565343637	chr1:197773780-197773781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141634668	chr1:197773802-197773803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554263113	chr1:197773819-197773820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114436278	chr1:197773827-197773828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188694457	chr1:197773841-197773842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386638283	chr1:197773883-197773884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533575703	chr1:197773891-197773892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145390966	chr1:197773913-197773914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548560279	chr1:197773927-197773928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536093565	chr1:197773947-197773948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541352906	chr1:197773957-197773958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559646072	chr1:197773986-197773987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548196812	chr1:197774011-197774012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572476201	chr1:197774012-197774013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543057111	chr1:197774026-197774027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561118387	chr1:197774054-197774055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531869846	chr1:197774056-197774057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549987391	chr1:197774057-197774058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193007551	chr1:197774066-197774067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116528191	chr1:197774100-197774101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12079329	chr1:197774102-197774103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566076254	chr1:197774111-197774112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376728383	chr1:197774115-197774116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185676538	chr1:197774147-197774148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189621421	chr1:197774166-197774167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537170995	chr1:197774176-197774177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537751468	chr1:197774189-197774190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116789851	chr1:197774196-197774197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Breast cancer	21611746	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197771200-197777000	Weak transcription	Gastric	stomach
2	chr1:197771200-197777800	Weak transcription	HepG2	liver
3	chr1:197771600-197780600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:197771600-197784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:197771800-197776400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:197772000-197777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:197772000-197778000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:197772200-197776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:197775400-197776000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:197775800-197777400	Enhancers	GM12878-XiMat	blood
11	chr1:197776000-197776400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:197776200-197778800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:197776400-197777200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:197776400-197777200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:197776400-197778400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:197776400-197780600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:197776400-197782600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:197776600-197777200	Enhancers	K562	blood
19	chr1:197776600-197777400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:197776600-197778600	Enhancers	Fetal Heart	heart
21	chr1:197776600-197785400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:197776800-197778200	Enhancers	Stomach Mucosa	stomach
23	chr1:197776800-197782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:197777000-197777200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:197777000-197777400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:197777000-197778200	Enhancers	Gastric	stomach
27	chr1:197777000-197778400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:197777200-197777600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:197777200-197778000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:197777200-197778200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:197777200-197778400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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