Variant report

Variant	esv3371310
Chromosome Location	chr1:197771529-197775727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs6673263	chr1:197771561-197771562	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181065536	chr1:197771564-197771565	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565645377	chr1:197771605-197771606	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12562253	chr1:197771619-197771620	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535445089	chr1:197771620-197771621	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185670408	chr1:197771621-197771622	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190385418	chr1:197771622-197771623	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539904253	chr1:197771626-197771627	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577719535	chr1:197771627-197771628	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558410957	chr1:197771646-197771647	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573444165	chr1:197771660-197771661	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181655103	chr1:197771679-197771680	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187062248	chr1:197771686-197771687	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4268380	chr1:197771731-197771732	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543916747	chr1:197771746-197771747	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562495238	chr1:197771751-197771752	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532920768	chr1:197771762-197771763	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551435937	chr1:197771765-197771766	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559937462	chr1:197771782-197771783	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527449647	chr1:197771790-197771791	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548878092	chr1:197771799-197771800	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567179259	chr1:197771831-197771832	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139352272	chr1:197771838-197771839	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550740588	chr1:197771843-197771844	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564570479	chr1:197771872-197771873	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569210415	chr1:197771873-197771874	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112458415	chr1:197771879-197771880	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558246032	chr1:197771892-197771893	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573484302	chr1:197771903-197771904	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56264513	chr1:197771907-197771908	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540610926	chr1:197771941-197771942	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534343252	chr1:197771963-197771964	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555993903	chr1:197771965-197771966	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574291849	chr1:197772041-197772042	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544872694	chr1:197772053-197772054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562373292	chr1:197772067-197772068	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577539087	chr1:197772098-197772099	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11805260	chr1:197772114-197772115	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559778447	chr1:197772116-197772117	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112843643	chr1:197772121-197772122	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61830573	chr1:197772133-197772134	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs11801947	chr1:197772134-197772135	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560742572	chr1:197772175-197772176	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531534375	chr1:197772181-197772182	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559760721	chr1:197772196-197772197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550019445	chr1:197772197-197772198	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569171135	chr1:197772198-197772199	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs529605787	chr1:197772202-197772203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58377781	chr1:197772203-197772204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149976283	chr1:197772217-197772218	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197769600-197771600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:197770000-197771600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:197771200-197771600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:197771200-197772000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:197771200-197777000	Weak transcription	Gastric	stomach
6	chr1:197771200-197777800	Weak transcription	HepG2	liver
7	chr1:197771400-197771600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:197771400-197771600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:197771400-197771600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:197771400-197771800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:197771400-197771800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:197771400-197772000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:197771400-197772000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:197771400-197772000	Weak transcription	Dnd41	blood
15	chr1:197771400-197772200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:197771600-197771800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:197771600-197772000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:197771600-197772000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:197771600-197780600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:197771600-197784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:197771800-197776400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:197772000-197777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:197772000-197778000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:197772200-197776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:197775400-197776000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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