Variant report

Variant	esv3407330
Chromosome Location	chr1:113314954-113318002
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	chr1:113314765..113317028-chr1:113318747..113320403,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9659014	chr1:113314963-113314964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185116104	chr1:113314970-113314971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541968429	chr1:113314992-113314993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113800712	chr1:113315000-113315001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530307715	chr1:113315021-113315022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543687165	chr1:113315183-113315184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547262975	chr1:113315200-113315201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375045694	chr1:113315217-113315218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148351857	chr1:113315278-113315279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59637376	chr1:113315279-113315280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193095547	chr1:113315284-113315285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113574108	chr1:113315319-113315320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79681376	chr1:113315393-113315394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573169996	chr1:113315554-113315555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140576562	chr1:113315716-113315717	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568253679	chr1:113315756-113315757	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533733177	chr1:113315777-113315778	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553577022	chr1:113315795-113315796	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367727650	chr1:113315852-113315853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79260948	chr1:113315895-113315896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs116445148	chr1:113315896-113315897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs575990698	chr1:113315911-113315912	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183946893	chr1:113315937-113315938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188324667	chr1:113315950-113315951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558224372	chr1:113315962-113315963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572200390	chr1:113316000-113316001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540816112	chr1:113316017-113316018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576772863	chr1:113316090-113316091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560755000	chr1:113316123-113316124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532668868	chr1:113316124-113316125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552841023	chr1:113316136-113316137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562701142	chr1:113316138-113316139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374823857	chr1:113316162-113316163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58834426	chr1:113316169-113316170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543918529	chr1:113316199-113316200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371676327	chr1:113316209-113316210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531585920	chr1:113316212-113316213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548221404	chr1:113316213-113316214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529848987	chr1:113316215-113316216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568191282	chr1:113316217-113316218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542021885	chr1:113316221-113316222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534060212	chr1:113316238-113316239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367973642	chr1:113316250-113316251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112207558	chr1:113316265-113316266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547240003	chr1:113316268-113316269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77680193	chr1:113316285-113316286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370077591	chr1:113316288-113316289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539307708	chr1:113316313-113316314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560412927	chr1:113316345-113316346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373206375	chr1:113316363-113316364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113305600-113320000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:113305600-113332800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:113307400-113316000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:113310600-113320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:113314200-113315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:113315400-113316000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:113315600-113315800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:113316000-113317800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:113317800-113318400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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