Variant report

Variant	esv3327342
Chromosome Location	chr8:67137447-67171527
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	chr8:67133300..67135377-chr8:67135506..67138428,2	MCF-7	breast:
2	chr8:67171301..67174533-chr8:67175570..67177832,3	MCF-7	breast:

Extended variants
information (count: 1246 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2469301	chr8:67137612-67137613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75745764	chr8:67137617-67137618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549542930	chr8:67137629-67137630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569397079	chr8:67137638-67137639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538387866	chr8:67137716-67137717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77650072	chr8:67137765-67137766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186055629	chr8:67137808-67137809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534572485	chr8:67137869-67137870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76228411	chr8:67137910-67137911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574714016	chr8:67137924-67137925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116574036	chr8:67137936-67137937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557424085	chr8:67137938-67137939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2446437	chr8:67137940-67137941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146674073	chr8:67137965-67137966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368425979	chr8:67137982-67137983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374958017	chr8:67137988-67137989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375936455	chr8:67138041-67138042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192130380	chr8:67138042-67138043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138512195	chr8:67138050-67138051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528701714	chr8:67138063-67138064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541801205	chr8:67138068-67138069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144002466	chr8:67138104-67138105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562387198	chr8:67138206-67138207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531145310	chr8:67138267-67138268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183307940	chr8:67138297-67138298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116434656	chr8:67138331-67138332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529605996	chr8:67138364-67138365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532032882	chr8:67138414-67138415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187640191	chr8:67138419-67138420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2469300	chr8:67138453-67138454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59920658	chr8:67138634-67138635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144320313	chr8:67138635-67138636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148749800	chr8:67138644-67138645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373260536	chr8:67138658-67138659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535155491	chr8:67138659-67138660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547300504	chr8:67138664-67138665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190491399	chr8:67138683-67138684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556026466	chr8:67138684-67138685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546276553	chr8:67138735-67138736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149837387	chr8:67138737-67138738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553528360	chr8:67138794-67138795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557984306	chr8:67138809-67138810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571685174	chr8:67138814-67138815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76471027	chr8:67138831-67138832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562185781	chr8:67138843-67138844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78637126	chr8:67138887-67138888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544508232	chr8:67138902-67138903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142366603	chr8:67138953-67138954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531994790	chr8:67138988-67138989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182742542	chr8:67139013-67139014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67132200-67137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:67133400-67140000	Weak transcription	Lung	lung
3	chr8:67135200-67137600	Enhancers	Placenta	Placenta
4	chr8:67136200-67140600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:67136400-67140400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:67136400-67140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:67136400-67140600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:67136400-67140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:67136400-67140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:67136400-67140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:67136400-67140600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:67136400-67140600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:67136600-67140000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67136600-67140200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:67136600-67140600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:67136600-67140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:67136600-67140600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:67136600-67140600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:67136600-67141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:67136800-67137800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:67137000-67137800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:67137600-67137800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:67137600-67140000	Weak transcription	Placenta	Placenta
24	chr8:67140000-67140200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:67140000-67140800	Enhancers	Lung	lung
26	chr8:67140000-67141800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:67140000-67141800	Enhancers	Placenta	Placenta
28	chr8:67140200-67141600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:67140200-67142000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:67140600-67140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:67140600-67140800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:67140600-67141600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:67140600-67141600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:67140600-67141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:67140600-67141600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:67140600-67141600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:67140600-67141600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:67140600-67141600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:67140600-67141600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:67140600-67141800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:67140600-67141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:67140600-67141800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:67140800-67141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:67140800-67141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:67141200-67141600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:67141200-67141600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:67141200-67141600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:67141400-67141600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:67141800-67149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:67149000-67149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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