Variant report

Variant	esv3410807
Chromosome Location	chr5:27534244-27557614
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	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:
2	chr13:92004278..92006382-chr5:27545617..27547117,2	K562	blood:

Extended variants
information (count: 332 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543361281	chr5:27543804-27543805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561528097	chr5:27543818-27543819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531339115	chr5:27543858-27543859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549802108	chr5:27543866-27543867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368447400	chr5:27543873-27543874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12659906	chr5:27543893-27543894	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533870045	chr5:27543895-27543896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547304427	chr5:27543922-27543923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141886068	chr5:27543928-27543929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536006772	chr5:27543945-27543946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554451825	chr5:27543955-27543956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368438790	chr5:27543966-27543967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374781966	chr5:27543971-27543972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553614551	chr5:27544035-27544036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6894850	chr5:27544060-27544061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188538912	chr5:27544156-27544157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556127818	chr5:27544174-27544175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578060701	chr5:27544185-27544186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56117663	chr5:27544187-27544188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112036847	chr5:27544189-27544190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367629200	chr5:27544209-27544210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572612746	chr5:27544214-27544215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192927974	chr5:27544216-27544217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543198271	chr5:27544217-27544218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375402883	chr5:27544283-27544284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532035665	chr5:27544321-27544322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543478708	chr5:27544343-27544344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6873397	chr5:27544423-27544424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149603760	chr5:27544432-27544433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111282266	chr5:27544513-27544514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183811823	chr5:27544519-27544520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187903496	chr5:27544556-27544557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538479318	chr5:27544614-27544615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545335268	chr5:27544694-27544695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116423409	chr5:27544698-27544699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569654529	chr5:27544769-27544770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11948589	chr5:27544770-27544771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138625723	chr5:27544805-27544806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191874721	chr5:27544817-27544818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538619396	chr5:27544845-27544846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554246071	chr5:27544867-27544868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572582915	chr5:27544901-27544902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2329638	chr5:27544957-27544958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536890261	chr5:27544974-27544975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76245013	chr5:27544992-27544993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9293272	chr5:27545024-27545025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188198659	chr5:27545040-27545041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565404723	chr5:27545043-27545044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78963199	chr5:27545046-27545047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576781219	chr5:27545054-27545055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27543800-27544000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:27544000-27551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:27546800-27547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:27547000-27549800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:27547200-27547600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:27547200-27549200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:27547400-27550200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:27547600-27549600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:27547800-27548400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:27547800-27549400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:27547800-27549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:27547800-27550000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:27548200-27549600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:27548400-27548800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:27548400-27549400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:27548800-27549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:27548800-27549200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:27550800-27551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:27551600-27551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:27551600-27552000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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