Variant report

Variant	esv3360508
Chromosome Location	chr5:12939902-12991400
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	chr5:12292338..12293040-chr5:12945678..12946232,2	MCF-7	breast:
2	chr17:8102198..8104070-chr5:12974517..12976038,2	K562	blood:

Variant related genes	Relation type
ENSG00000271002	chromatin interactions

Extended variants
information (count: 687 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138181225	chr5:12942871-12942872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576777057	chr5:12942924-12942925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543835661	chr5:12942936-12942937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562618736	chr5:12942949-12942950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149303328	chr5:12942954-12942955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548285844	chr5:12942964-12942965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144529034	chr5:12942966-12942967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35309657	chr5:12942982-12942983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142718571	chr5:12943013-12943014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552911812	chr5:12943042-12943043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571009037	chr5:12943049-12943050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147216761	chr5:12943068-12943069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140308508	chr5:12943082-12943083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192148334	chr5:12943097-12943098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535603399	chr5:12943152-12943153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553842998	chr5:12943204-12943205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184364214	chr5:12943207-12943208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531434239	chr5:12943214-12943215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34565477	chr5:12943217-12943218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147803859	chr5:12943221-12943222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577029982	chr5:12943234-12943235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544480612	chr5:12943236-12943237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562373172	chr5:12943243-12943244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574482791	chr5:12943340-12943341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113690138	chr5:12943412-12943413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560248270	chr5:12943413-12943414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149901530	chr5:12943429-12943430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369844905	chr5:12943436-12943437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552465983	chr5:12943441-12943442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564814591	chr5:12943597-12943598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145368833	chr5:12943612-12943613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149191360	chr5:12943696-12943697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201089592	chr5:12943735-12943736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547313223	chr5:12943739-12943740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35614640	chr5:12943793-12943794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568159127	chr5:12943808-12943809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533334984	chr5:12943846-12943847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188714981	chr5:12943851-12943852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145183347	chr5:12943892-12943893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565809320	chr5:12943901-12943902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533755081	chr5:12943912-12943913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373002414	chr5:12943913-12943914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558506076	chr5:12943933-12943934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146865392	chr5:12944005-12944006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140510989	chr5:12944007-12944008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556413057	chr5:12944021-12944022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145622439	chr5:12944030-12944031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148117574	chr5:12944041-12944042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141909688	chr5:12944100-12944101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150213212	chr5:12944104-12944105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12942800-12943200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:12942800-12943400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:12943000-12943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:12943000-12943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:12943400-12944400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:12944400-12944600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:12944600-12944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:12947600-12948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:12952000-12952400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:12952400-12957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:12957200-12958400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:12957400-12958400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:12957400-12958600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:12957400-12958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:12957400-12958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:12957600-12958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:12957600-12958400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:12957600-12958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:12957800-12958200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:12958600-12959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:12959800-12960200	Enhancers	Adipose Nuclei	Adipose
22	chr5:12971200-12975200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:12974000-12974800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:12974200-12975400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:12974600-12976000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:12974800-12975600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:12975200-12977000	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:12975400-12975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:12975600-12977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:12975800-12977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:12983000-12983400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:12989800-12990200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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