Variant report

Variant	nsv524867
Chromosome Location	chr8:6709805-6715057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 432 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:432 , 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	rs2977795	chr8:6709805-6709806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557665878	chr8:6709809-6709810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375077173	chr8:6709812-6709813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545516129	chr8:6709813-6709814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565249039	chr8:6709816-6709817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139288720	chr8:6709823-6709824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550567292	chr8:6709831-6709832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567285372	chr8:6709837-6709838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530369295	chr8:6709863-6709864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546888339	chr8:6709864-6709865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567082932	chr8:6709898-6709899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538842788	chr8:6709917-6709918	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149594410	chr8:6709918-6709919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2951864	chr8:6709922-6709923	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537108961	chr8:6709923-6709924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370720395	chr8:6709925-6709926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2738060	chr8:6709933-6709934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542970162	chr8:6709935-6709936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553285947	chr8:6709941-6709942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34994136	chr8:6709947-6709948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144201662	chr8:6709974-6709975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560800810	chr8:6709977-6709978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184300061	chr8:6709979-6709980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148719995	chr8:6710009-6710010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530920903	chr8:6710067-6710068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200161118	chr8:6710088-6710089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398007002	chr8:6710091-6710092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544293151	chr8:6710095-6710096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143472239	chr8:6710100-6710101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546925126	chr8:6710109-6710110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189106958	chr8:6710123-6710124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146770382	chr8:6710138-6710139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192966088	chr8:6710148-6710149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201485621	chr8:6710152-6710153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558700993	chr8:6710155-6710156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10097858	chr8:6710181-6710182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200857062	chr8:6710191-6710192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139283181	chr8:6710246-6710247	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567302561	chr8:6710251-6710252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184748277	chr8:6710261-6710262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189094983	chr8:6710268-6710269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573055049	chr8:6710290-6710291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538888652	chr8:6710307-6710308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558514207	chr8:6710308-6710309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534115956	chr8:6710327-6710328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114843679	chr8:6710332-6710333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544329846	chr8:6710348-6710349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553999667	chr8:6710352-6710353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561031650	chr8:6710353-6710354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574559927	chr8:6710354-6710355	Weak transcription Enhancers Flanking Active TSS	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699000-6712600	Weak transcription	Right Atrium	heart
2	chr8:6699600-6710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:6699800-6710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:6707600-6710800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:6707600-6711000	Enhancers	Placenta	Placenta
7	chr8:6708600-6710000	Enhancers	Esophagus	oesophagus
8	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
9	chr8:6709000-6710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:6709000-6711000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:6709000-6711000	Enhancers	Pancreas	Pancrea
12	chr8:6709000-6712200	Enhancers	Fetal Thymus	thymus
13	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:6709200-6710000	Weak transcription	Fetal Kidney	kidney
15	chr8:6709200-6710200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:6709200-6710200	Enhancers	A549	lung
17	chr8:6709200-6710400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:6709200-6713000	Enhancers	Gastric	stomach
19	chr8:6709400-6710000	Weak transcription	Fetal Lung	lung
20	chr8:6709400-6710400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:6709400-6711200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:6709400-6717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:6709400-6717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:6709600-6710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:6709600-6710800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:6709600-6710800	Enhancers	HMEC	breast
27	chr8:6709600-6711000	Enhancers	NHEK	skin
28	chr8:6709600-6711600	Enhancers	Fetal Intestine Large	intestine
29	chr8:6709600-6711800	Enhancers	Fetal Intestine Small	intestine
30	chr8:6709800-6710000	Enhancers	Adipose Nuclei	Adipose
31	chr8:6709800-6710000	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:6709800-6710000	Flanking Active TSS	Dnd41	blood
33	chr8:6709800-6710200	Enhancers	Stomach Mucosa	stomach
34	chr8:6709800-6710400	Enhancers	HSMMtube	muscle
35	chr8:6709800-6710800	Enhancers	Liver	Liver
36	chr8:6709800-6711000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:6709800-6716400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:6710000-6710600	Enhancers	Fetal Lung	lung
39	chr8:6710000-6710800	Enhancers	Fetal Kidney	kidney
40	chr8:6710000-6711000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:6710000-6711000	Weak transcription	Esophagus	oesophagus
42	chr8:6710000-6711800	Enhancers	Dnd41	blood
43	chr8:6710200-6710400	Flanking Active TSS	A549	lung
44	chr8:6710200-6710600	Flanking Active TSS	Stomach Mucosa	stomach
45	chr8:6710400-6710600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:6710400-6711000	Enhancers	A549	lung
47	chr8:6710600-6711600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:6710600-6713600	Weak transcription	Fetal Lung	lung
49	chr8:6710600-6714000	Enhancers	Stomach Mucosa	stomach
50	chr8:6710800-6711000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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