Variant report

Variant	esv15951
Chromosome Location	chr1:195359744-195365244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6690599	chr1:195363004-195363005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187034602	chr1:195363052-195363053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200529731	chr1:195363117-195363118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79473878	chr1:195363172-195363173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147792109	chr1:195363173-195363174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555785047	chr1:195363176-195363177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141164578	chr1:195363181-195363182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189954149	chr1:195363235-195363236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7512787	chr1:195363289-195363290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150301843	chr1:195363302-195363303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542834360	chr1:195363312-195363313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546809591	chr1:195363326-195363327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561047205	chr1:195363340-195363341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531890058	chr1:195363341-195363342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372286229	chr1:195363370-195363371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6428283	chr1:195363412-195363413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183240870	chr1:195363453-195363454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80009581	chr1:195363504-195363505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7513072	chr1:195363514-195363515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73060238	chr1:195363533-195363534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568524745	chr1:195363585-195363586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187776103	chr1:195363661-195363662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75019245	chr1:195363702-195363703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149218818	chr1:195363714-195363715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555797069	chr1:195363719-195363720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185097550	chr1:195363734-195363735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577580772	chr1:195363770-195363771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544960968	chr1:195363786-195363787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192646847	chr1:195363846-195363847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560320951	chr1:195363874-195363875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572338629	chr1:195363916-195363917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542941549	chr1:195363923-195363924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557430742	chr1:195363976-195363977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79692387	chr1:195363985-195363986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531494523	chr1:195363991-195363992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185690929	chr1:195363997-195363998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376624518	chr1:195363998-195363999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143371896	chr1:195364040-195364041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532480838	chr1:195364058-195364059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547807650	chr1:195364067-195364068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77202532	chr1:195364086-195364087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530470060	chr1:195364091-195364092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12136035	chr1:195364118-195364119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187751500	chr1:195364132-195364133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537210818	chr1:195364154-195364155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374624407	chr1:195364164-195364165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549487377	chr1:195364170-195364171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571347007	chr1:195364192-195364193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538339352	chr1:195364220-195364221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371408933	chr1:195364224-195364225	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195363000-195363400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:195363200-195364400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:195363800-195364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:195364400-195367200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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