Variant report

Variant	esv3436843
Chromosome Location	chr1:147259271-147261017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147257526..147261196-chr1:147263496..147265511,3	MCF-7	breast:
2	chr1:147258662..147261590-chr1:147270902..147273169,3	MCF-7	breast:
3	chr1:147259078..147261479-chr1:147266280..147268485,2	MCF-7	breast:
4	chr1:147252565..147254194-chr1:147257728..147259512,2	MCF-7	breast:
5	chr1:147253982..147256046-chr1:147260183..147262374,2	K562	blood:
6	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA8-1	chr1:147260720-147261065	XLOC_000387

No data

Extended variants
information (count: 55 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138643854	chr1:147259292-147259293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74791680	chr1:147259321-147259322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149330287	chr1:147259332-147259333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76816335	chr1:147259336-147259337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587702329	chr1:147259372-147259373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587759898	chr1:147259476-147259477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376390490	chr1:147259536-147259537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587689746	chr1:147259557-147259558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1342706	chr1:147259605-147259606	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587642166	chr1:147259623-147259624	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs75375598	chr1:147259640-147259641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs144590702	chr1:147259661-147259662	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs186619553	chr1:147259698-147259699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs34396643	chr1:147259701-147259702	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs79978112	chr1:147259793-147259794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs148412673	chr1:147259801-147259802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587680622	chr1:147259810-147259811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112425608	chr1:147259852-147259853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72702326	chr1:147259919-147259920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587607272	chr1:147260023-147260024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55747601	chr1:147260024-147260025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs587742330	chr1:147260058-147260059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75094418	chr1:147260096-147260097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587677740	chr1:147260122-147260123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141625854	chr1:147260170-147260171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147127157	chr1:147260174-147260175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587687722	chr1:147260250-147260251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140409924	chr1:147260265-147260266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587743267	chr1:147260269-147260270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369467130	chr1:147260276-147260277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587611599	chr1:147260293-147260294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587694666	chr1:147260317-147260318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587746700	chr1:147260319-147260320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78974292	chr1:147260456-147260457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144269078	chr1:147260477-147260478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76111989	chr1:147260483-147260484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587656078	chr1:147260527-147260528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587709680	chr1:147260538-147260539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587612245	chr1:147260543-147260544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1908628	chr1:147260568-147260569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs587723151	chr1:147260598-147260599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181940572	chr1:147260630-147260631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186226427	chr1:147260673-147260674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189906373	chr1:147260725-147260726	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs587734672	chr1:147260751-147260752	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1908627	chr1:147260765-147260766	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74847853	chr1:147260812-147260813	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147935549	chr1:147260839-147260840	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs116484461	chr1:147260859-147260860	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs587691125	chr1:147260904-147260905	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147252400-147259600	Weak transcription	Left Ventricle	heart
2	chr1:147253800-147260000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:147257800-147260000	Weak transcription	Right Atrium	heart
4	chr1:147257800-147260400	Enhancers	Fetal Heart	heart
5	chr1:147258400-147259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:147259000-147266600	Weak transcription	Right Ventricle	heart
7	chr1:147259600-147259800	Bivalent Enhancer	HUVEC	blood vessel
8	chr1:147259600-147260400	Enhancers	Left Ventricle	heart
9	chr1:147259800-147260000	Weak transcription	Lung	lung
10	chr1:147259800-147260600	Enhancers	HUVEC	blood vessel
11	chr1:147260000-147260200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:147260000-147260200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:147260000-147260200	Enhancers	Lung	lung
14	chr1:147260000-147260400	Enhancers	Right Atrium	heart
15	chr1:147260200-147261000	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:147260200-147266600	Weak transcription	Lung	lung
17	chr1:147260200-147266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:147260600-147265600	Weak transcription	HUVEC	blood vessel

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