Variant report

Variant	esv3362072
Chromosome Location	chr1:191400344-191425805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
2	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
3	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
4	chr1:191420711..191422302-chr1:191475055..191477121,2	K562	blood:
5	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
6	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567359953	chr1:191401840-191401841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141413345	chr1:191401891-191401892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183994588	chr1:191401918-191401919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189691080	chr1:191401965-191401966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs524646	chr1:191401978-191401979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181788542	chr1:191401982-191401983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577568869	chr1:191402042-191402043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369929535	chr1:191402080-191402081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544404261	chr1:191402085-191402086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368912296	chr1:191402159-191402160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562993296	chr1:191402160-191402161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529484171	chr1:191402172-191402173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543182746	chr1:191402243-191402244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560125802	chr1:191402269-191402270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577992885	chr1:191402285-191402286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373033666	chr1:191402318-191402319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528787880	chr1:191402357-191402358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186860695	chr1:191402374-191402375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373112022	chr1:191402385-191402386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568648688	chr1:191421806-191421807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537424732	chr1:191421829-191421830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554574783	chr1:191421840-191421841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17397806	chr1:191421857-191421858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181435454	chr1:191421859-191421860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540530626	chr1:191421879-191421880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140130223	chr1:191421883-191421884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577109663	chr1:191421886-191421887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186542128	chr1:191421906-191421907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191596417	chr1:191421911-191421912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372291409	chr1:191422007-191422008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531054759	chr1:191422130-191422131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376704686	chr1:191422400-191422401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537964274	chr1:191422419-191422420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371967807	chr1:191422435-191422436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568051493	chr1:191422437-191422438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533600829	chr1:191422448-191422449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534674776	chr1:191422450-191422451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149977674	chr1:191422504-191422505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145202870	chr1:191422557-191422558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76279197	chr1:191422573-191422574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574361029	chr1:191422590-191422591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575614816	chr1:191422605-191422606	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565961999	chr1:191422614-191422615	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs544699472	chr1:191422689-191422690	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561078357	chr1:191422710-191422711	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111510660	chr1:191422733-191422734	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374888295	chr1:191422767-191422768	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182748907	chr1:191422791-191422792	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs488896	chr1:191422804-191422805	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534585379	chr1:191422823-191422824	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191401800-191402000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:191401800-191402400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:191421800-191422200	Enhancers	K562	blood
4	chr1:191422400-191423000	Active TSS	K562	blood
5	chr1:191422600-191423000	Enhancers	Dnd41	blood

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