Variant report

Variant	esv1799001
Chromosome Location	chr8:35414987-35422131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 254 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147294103	chr8:35415070-35415071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185523201	chr8:35415140-35415141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35318513	chr8:35415310-35415311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545963913	chr8:35415313-35415314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190475266	chr8:35415338-35415339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573151184	chr8:35415340-35415341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181738801	chr8:35415388-35415389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540217295	chr8:35415399-35415400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186233720	chr8:35415401-35415402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559230823	chr8:35415439-35415440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369390391	chr8:35415486-35415487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559020802	chr8:35415493-35415494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35713737	chr8:35415496-35415497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140952261	chr8:35415534-35415535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59103063	chr8:35415559-35415560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2918970	chr8:35415598-35415599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2958258	chr8:35415636-35415637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563127802	chr8:35415639-35415640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2958259	chr8:35415642-35415643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376516475	chr8:35415645-35415646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398007488	chr8:35415664-35415665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372285503	chr8:35415676-35415677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188644670	chr8:35415686-35415687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181434559	chr8:35415694-35415695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6997313	chr8:35415702-35415703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528087293	chr8:35415717-35415718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58616036	chr8:35415723-35415724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546587219	chr8:35415752-35415753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544297313	chr8:35415768-35415769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540734198	chr8:35415833-35415834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536131450	chr8:35415847-35415848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551228422	chr8:35415957-35415958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2579895	chr8:35416030-35416031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539968435	chr8:35416056-35416057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557973995	chr8:35416068-35416069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573248215	chr8:35416070-35416071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533953733	chr8:35416088-35416089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555319699	chr8:35416124-35416125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574427025	chr8:35416158-35416159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529822834	chr8:35416160-35416161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185723358	chr8:35416198-35416199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575354098	chr8:35416222-35416223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144900479	chr8:35416223-35416224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369442170	chr8:35416226-35416227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145874995	chr8:35416238-35416239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190886629	chr8:35416263-35416264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546644132	chr8:35416266-35416267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561650713	chr8:35416270-35416271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148918874	chr8:35416276-35416277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142801151	chr8:35416277-35416278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35402600-35418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:35403000-35416400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:35404200-35416400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:35405400-35416000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:35405400-35416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:35406000-35415600	Weak transcription	Fetal Brain Female	brain
7	chr8:35407800-35416600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:35408200-35418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:35408400-35416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:35410200-35418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:35412200-35415400	Weak transcription	Fetal Kidney	kidney
12	chr8:35413000-35416400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:35414400-35415000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:35414600-35415000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:35414600-35418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:35414800-35415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:35414800-35424200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:35415000-35423400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:35415000-35431000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:35415200-35416600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:35416000-35419200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:35416200-35417200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:35416200-35417600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:35416200-35419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:35416400-35417000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:35416400-35417000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:35416400-35417400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:35416400-35419000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:35416600-35417600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:35416600-35417600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:35416800-35417200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:35417000-35418000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:35417000-35418400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:35417200-35418200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:35417400-35417800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:35417600-35418000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:35417600-35418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:35417800-35419200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:35418000-35418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:35418000-35418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:35418000-35419000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:35418000-35419000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:35418200-35419000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:35418200-35419000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:35418200-35419000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:35418200-35419000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:35418400-35419000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:35418400-35419000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:35418800-35423000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:35418800-35423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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