Variant report

Variant	nsv527446
Chromosome Location	chr8:6710502-6715057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6712654..6715531-chr8:6716503..6718496,2	K562	blood:
2	chr8:6708463..6711490-chr8:6770030..6772740,3	MCF-7	breast:
3	chr8:6714335..6716270-chr8:6770268..6773044,2	MCF-7	breast:
4	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:

Extended variants
information (count: 372 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2951863	chr8:6710502-6710503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536303335	chr8:6710511-6710512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546285115	chr8:6710543-6710544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564764469	chr8:6710544-6710545	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533060938	chr8:6710556-6710557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144115289	chr8:6710566-6710567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538605347	chr8:6710581-6710582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs527968289	chr8:6710582-6710583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575132905	chr8:6710624-6710625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572399991	chr8:6710626-6710627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537666439	chr8:6710649-6710650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554315091	chr8:6710672-6710673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574595130	chr8:6710679-6710680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150987084	chr8:6710680-6710681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17078228	chr8:6710695-6710696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577146271	chr8:6710716-6710717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528917970	chr8:6710727-6710728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546212142	chr8:6710729-6710730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563210373	chr8:6710736-6710737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34688620	chr8:6710741-6710742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377091284	chr8:6710742-6710743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140761331	chr8:6710803-6710804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77366968	chr8:6710807-6710808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186272005	chr8:6710820-6710821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529857642	chr8:6710833-6710834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530189207	chr8:6710851-6710852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546674092	chr8:6710862-6710863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2978887	chr8:6710879-6710880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563773464	chr8:6710880-6710881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551854301	chr8:6710886-6710887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568835837	chr8:6710899-6710900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80078514	chr8:6710902-6710903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554353602	chr8:6710906-6710907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189220509	chr8:6710940-6710941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534061719	chr8:6710950-6710951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537740621	chr8:6710987-6710988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532526630	chr8:6710992-6710993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74681671	chr8:6710993-6710994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111343165	chr8:6710997-6710998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180933573	chr8:6711005-6711006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76515333	chr8:6711012-6711013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376666857	chr8:6711028-6711029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576814392	chr8:6711029-6711030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542528371	chr8:6711040-6711041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150114675	chr8:6711055-6711056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145457210	chr8:6711066-6711067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539989934	chr8:6711069-6711070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560210381	chr8:6711098-6711099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57756222	chr8:6711127-6711128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141178524	chr8:6711163-6711164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699000-6712600	Weak transcription	Right Atrium	heart
2	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:6707600-6710800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:6707600-6711000	Enhancers	Placenta	Placenta
5	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
6	chr8:6709000-6711000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:6709000-6711000	Enhancers	Pancreas	Pancrea
8	chr8:6709000-6712200	Enhancers	Fetal Thymus	thymus
9	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:6709200-6713000	Enhancers	Gastric	stomach
11	chr8:6709400-6711200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:6709400-6717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:6709400-6717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:6709600-6710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:6709600-6710800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:6709600-6710800	Enhancers	HMEC	breast
17	chr8:6709600-6711000	Enhancers	NHEK	skin
18	chr8:6709600-6711600	Enhancers	Fetal Intestine Large	intestine
19	chr8:6709600-6711800	Enhancers	Fetal Intestine Small	intestine
20	chr8:6709800-6710800	Enhancers	Liver	Liver
21	chr8:6709800-6711000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:6709800-6716400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:6710000-6710600	Enhancers	Fetal Lung	lung
24	chr8:6710000-6710800	Enhancers	Fetal Kidney	kidney
25	chr8:6710000-6711000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:6710000-6711000	Weak transcription	Esophagus	oesophagus
27	chr8:6710000-6711800	Enhancers	Dnd41	blood
28	chr8:6710200-6710600	Flanking Active TSS	Stomach Mucosa	stomach
29	chr8:6710400-6710600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:6710400-6711000	Enhancers	A549	lung
31	chr8:6710600-6711600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:6710600-6713600	Weak transcription	Fetal Lung	lung
33	chr8:6710600-6714000	Enhancers	Stomach Mucosa	stomach
34	chr8:6710800-6711000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:6710800-6711200	Enhancers	Brain Germinal Matrix	brain
36	chr8:6710800-6711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:6710800-6712000	Weak transcription	HMEC	breast
38	chr8:6711000-6711200	Enhancers	Esophagus	oesophagus
39	chr8:6711000-6712000	Weak transcription	Pancreas	Pancrea
40	chr8:6711000-6713400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:6711200-6713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:6711400-6712200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr8:6711600-6711800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr8:6711600-6712200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:6711600-6712200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr8:6711600-6712200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:6711600-6712200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:6711600-6712200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:6711600-6712600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:6711800-6712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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