Variant report

Variant	esv3452638
Chromosome Location	chr1:195409142-195416611
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	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536491184	chr1:195409150-195409151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373352453	chr1:195409155-195409156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190370229	chr1:195409175-195409176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537963888	chr1:195409203-195409204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114597228	chr1:195409243-195409244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532837546	chr1:195409278-195409279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113894228	chr1:195409289-195409290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2119440	chr1:195409295-195409296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553610019	chr1:195409296-195409297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553828559	chr1:195409306-195409307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572296140	chr1:195409321-195409322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181516722	chr1:195409333-195409334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560726498	chr1:195409337-195409338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531373696	chr1:195409371-195409372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543525607	chr1:195409381-195409382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143774890	chr1:195414015-195414016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535345090	chr1:195414038-195414039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181854057	chr1:195414050-195414051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186052519	chr1:195414051-195414052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190413362	chr1:195414052-195414053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533113968	chr1:195414066-195414067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182655539	chr1:195414085-195414086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369937703	chr1:195414144-195414145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373090635	chr1:195414175-195414176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112763794	chr1:195414197-195414198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186220115	chr1:195414254-195414255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572248639	chr1:195414264-195414265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557366077	chr1:195414283-195414284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191113519	chr1:195414319-195414320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376077605	chr1:195414340-195414341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553744672	chr1:195416080-195416081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12403940	chr1:195416104-195416105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs143772343	chr1:195416134-195416135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189003776	chr1:195416154-195416155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181437319	chr1:195416164-195416165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200115766	chr1:195416170-195416171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560824764	chr1:195416181-195416182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571533784	chr1:195416209-195416210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186565026	chr1:195416282-195416283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151077491	chr1:195416321-195416322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7523926	chr1:195416365-195416366	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560040539	chr1:195416373-195416374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140995462	chr1:195416385-195416386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191015522	chr1:195416395-195416396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150217128	chr1:195416418-195416419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs537961811	chr1:195416423-195416424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs76457049	chr1:195416430-195416431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571234016	chr1:195416464-195416465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538211268	chr1:195416473-195416474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567242179	chr1:195416489-195416490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195409000-195409400	Enhancers	Adipose Nuclei	Adipose
2	chr1:195414000-195414400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:195416000-195418600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:195416600-195417000	Enhancers	HUES48 Cell Line	embryonic stem cell

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