Variant report

Variant	esv1807789
Chromosome Location	chr5:8098293-8147530
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
2	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:
3	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
4	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:
5	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
6	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:
7	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:
8	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
9	chr5:8106076..8107947-chr6:87646502..87649216,2	MCF-7	breast:
10	chr5:8129393..8131409-chr5:8134410..8137321,2	K562	blood:
11	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
12	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
13	chr5:8129393..8131409-chr5:8134410..8137321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168830	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575701895	chr5:8103205-8103206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76834271	chr5:8103207-8103208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7710158	chr5:8103227-8103228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7710160	chr5:8103231-8103232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376777959	chr5:8103292-8103293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7717932	chr5:8103293-8103294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572305946	chr5:8103307-8103308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7713996	chr5:8103313-8103314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11382585	chr5:8103338-8103339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71697512	chr5:8103339-8103340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532478091	chr5:8103353-8103354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7714135	chr5:8103390-8103391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138955171	chr5:8103391-8103392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372887120	chr5:8103395-8103396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561226924	chr5:8103396-8103397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115012877	chr5:8103412-8103413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368094972	chr5:8103450-8103451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372350461	chr5:8103466-8103467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376601265	chr5:8103475-8103476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78256306	chr5:8103476-8103477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376195963	chr5:8103501-8103502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562987983	chr5:8103530-8103531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202232386	chr5:8103546-8103547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148443182	chr5:8103547-8103548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374697596	chr5:8103548-8103549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74734653	chr5:8103575-8103576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565043509	chr5:8103586-8103587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547091042	chr5:8106098-8106099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552986955	chr5:8106107-8106108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374413341	chr5:8106118-8106119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61514918	chr5:8106119-8106120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531750701	chr5:8106176-8106177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs36014728	chr5:8106188-8106189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13182814	chr5:8106213-8106214	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs56675541	chr5:8106245-8106246	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189071302	chr5:8106249-8106250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13161935	chr5:8106265-8106266	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577364811	chr5:8106283-8106284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13163063	chr5:8106328-8106329	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs367832357	chr5:8106381-8106382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559780142	chr5:8106401-8106402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35009176	chr5:8106426-8106427	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35745241	chr5:8106437-8106438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181522519	chr5:8106494-8106495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530582790	chr5:8106517-8106518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141802015	chr5:8106518-8106519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150587779	chr5:8106525-8106526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113341932	chr5:8106530-8106531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546905717	chr5:8106551-8106552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184692639	chr5:8106557-8106558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8103200-8103600	Enhancers	GM12878-XiMat	blood
2	chr5:8123800-8124200	Enhancers	Fetal Brain Male	brain
3	chr5:8129200-8129800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:8129400-8129800	Enhancers	Brain Germinal Matrix	brain
5	chr5:8129600-8129800	Enhancers	Gastric	stomach
6	chr5:8129800-8134800	Weak transcription	Gastric	stomach
7	chr5:8134600-8135400	Enhancers	Aorta	Aorta
8	chr5:8134800-8135000	Enhancers	Gastric	stomach
9	chr5:8138200-8138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:8144800-8145800	Enhancers	Fetal Lung	lung
11	chr5:8145200-8145600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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