Variant report

Variant	esv3438928
Chromosome Location	chr7:13255797-13257600
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	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
2	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988

Extended variants
information (count: 111 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76290512	chr7:13255806-13255807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185035236	chr7:13255807-13255808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187976702	chr7:13255824-13255825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552045499	chr7:13255839-13255840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565116734	chr7:13255853-13255854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111706550	chr7:13255866-13255867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192721662	chr7:13255878-13255879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567617539	chr7:13255888-13255889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536751184	chr7:13255892-13255893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144627495	chr7:13255900-13255901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573271388	chr7:13255925-13255926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373221041	chr7:13255954-13255955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539074871	chr7:13255955-13255956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563528026	chr7:13255962-13255963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558969721	chr7:13255976-13255977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147887840	chr7:13256046-13256047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183648182	chr7:13256053-13256054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6461013	chr7:13256058-13256059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139974859	chr7:13256088-13256089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559329802	chr7:13256103-13256104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577685371	chr7:13256107-13256108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150018708	chr7:13256154-13256155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111536131	chr7:13256159-13256160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559859576	chr7:13256162-13256163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112323423	chr7:13256192-13256193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189531877	chr7:13256201-13256202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6961896	chr7:13256207-13256208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192434196	chr7:13256215-13256216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531647638	chr7:13256228-13256229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532563834	chr7:13256250-13256251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548036988	chr7:13256254-13256255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568261841	chr7:13256260-13256261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113316488	chr7:13256270-13256271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534025735	chr7:13256297-13256298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545456039	chr7:13256298-13256299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184829884	chr7:13256327-13256328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567003692	chr7:13256340-13256341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539006962	chr7:13256342-13256343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113335273	chr7:13256343-13256344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4721194	chr7:13256351-13256352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550567209	chr7:13256356-13256357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142431946	chr7:13256363-13256364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146880831	chr7:13256384-13256385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552506969	chr7:13256394-13256395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574684866	chr7:13256397-13256398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540462729	chr7:13256430-13256431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140737945	chr7:13256449-13256450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566219515	chr7:13256452-13256453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576549110	chr7:13256464-13256465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545445285	chr7:13256469-13256470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea
2	chr7:13253800-13258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:13256600-13257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:13257200-13257600	Enhancers	Rectal Smooth Muscle	rectum
5	chr7:13257400-13258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:13257400-13258200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:13257400-13258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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