Variant report

Variant	esv3362836
Chromosome Location	chr8:1397345-1399643
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	chr8:1399362..1401651-chr8:1405171..1407325,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-1	chr8:1398398-1398442	XLOC_006687
2	lnc-DLGAP2-1	chr8:1398496-1398683	XLOC_006687

Extended variants
information (count: 194 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566178378	chr8:1397347-1397348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529172293	chr8:1397357-1397358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549299425	chr8:1397368-1397369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183680562	chr8:1397405-1397406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530969484	chr8:1397411-1397412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188731441	chr8:1397435-1397436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373793285	chr8:1397456-1397457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191637045	chr8:1397465-1397466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533555485	chr8:1397504-1397505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185288194	chr8:1397533-1397534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548770052	chr8:1397536-1397537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566745641	chr8:1397557-1397558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535706168	chr8:1397615-1397616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555678453	chr8:1397641-1397642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139612906	chr8:1397659-1397660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537475107	chr8:1397666-1397667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114549999	chr8:1397684-1397685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577628124	chr8:1397685-1397686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540342535	chr8:1397705-1397706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553636493	chr8:1397736-1397737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573888707	chr8:1397737-1397738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542935407	chr8:1397740-1397741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570176466	chr8:1397741-1397742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73534608	chr8:1397744-1397745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190164497	chr8:1397767-1397768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371331395	chr8:1397769-1397770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145550176	chr8:1397783-1397784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533240403	chr8:1397788-1397789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74379278	chr8:1397790-1397791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566712793	chr8:1397818-1397819	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529490839	chr8:1397827-1397828	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370625186	chr8:1397855-1397856	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569243937	chr8:1397882-1397883	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374079486	chr8:1397886-1397887	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181819157	chr8:1397891-1397892	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187364292	chr8:1397896-1397897	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148877464	chr8:1397910-1397911	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189248999	chr8:1397951-1397952	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73172548	chr8:1397958-1397959	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573879942	chr8:1397966-1397967	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553214816	chr8:1397985-1397986	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13274569	chr8:1397987-1397988	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13250345	chr8:1398000-1398001	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12680220	chr8:1398029-1398030	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374482003	chr8:1398040-1398041	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112648523	chr8:1398049-1398050	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111286976	chr8:1398057-1398058	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112951463	chr8:1398076-1398077	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7003182	chr8:1398087-1398088	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71497199	chr8:1398092-1398093	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Glioma	20126413	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1388000-1397800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1388000-1402000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:1397000-1399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:1397600-1398000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1397600-1398000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:1397800-1398800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1398000-1401800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:1398600-1399000	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:1398600-1399800	Enhancers	Colon Smooth Muscle	Colon
10	chr8:1398800-1399000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:1398800-1399200	Enhancers	Fetal Stomach	stomach
12	chr8:1398800-1400000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1399000-1402000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:1399200-1399600	Enhancers	Rectal Smooth Muscle	rectum

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