Variant report

Variant	esv3389603
Chromosome Location	chr8:6706942-6710640
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	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
2	chr8:6708463..6711490-chr8:6770030..6772740,3	MCF-7	breast:

Extended variants
information (count: 333 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535166297	chr8:6706945-6706946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188236275	chr8:6706949-6706950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571696607	chr8:6706965-6706966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28750384	chr8:6706975-6706976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574298705	chr8:6706985-6706986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186464775	chr8:6706996-6706997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191606175	chr8:6707010-6707011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528853060	chr8:6707050-6707051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540772694	chr8:6707061-6707062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563813585	chr8:6707071-6707072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145124570	chr8:6707095-6707096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543420635	chr8:6707098-6707099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141690140	chr8:6707100-6707101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529190166	chr8:6707118-6707119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549289375	chr8:6707142-6707143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565929479	chr8:6707155-6707156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528274453	chr8:6707169-6707170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551939810	chr8:6707192-6707193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373610406	chr8:6707194-6707195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571786189	chr8:6707206-6707207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537125139	chr8:6707233-6707234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375769481	chr8:6707236-6707237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187296564	chr8:6707240-6707241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2927344	chr8:6707245-6707246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536990865	chr8:6707251-6707252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553247653	chr8:6707304-6707305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573127303	chr8:6707305-6707306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538831887	chr8:6707311-6707312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558691114	chr8:6707327-6707328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144741018	chr8:6707338-6707339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139194458	chr8:6707339-6707340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563337094	chr8:6707357-6707358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573553961	chr8:6707377-6707378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138694990	chr8:6707383-6707384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112879919	chr8:6707384-6707385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140263597	chr8:6707409-6707410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111639341	chr8:6707410-6707411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551626300	chr8:6707413-6707414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564886170	chr8:6707439-6707440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531046067	chr8:6707459-6707460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145356948	chr8:6707460-6707461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112432506	chr8:6707475-6707476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536222733	chr8:6707477-6707478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183178680	chr8:6707494-6707495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374057175	chr8:6707499-6707500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557116962	chr8:6707511-6707512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141654156	chr8:6707519-6707520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571857939	chr8:6707541-6707542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538916868	chr8:6707554-6707555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558729759	chr8:6707563-6707564	Weak transcription	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699000-6707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:6699000-6707800	Weak transcription	Thymus	Thymus
3	chr8:6699000-6712600	Weak transcription	Right Atrium	heart
4	chr8:6699200-6707800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:6699200-6707800	Weak transcription	Fetal Stomach	stomach
6	chr8:6699200-6708200	Weak transcription	Fetal Kidney	kidney
7	chr8:6699400-6708400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:6699400-6709000	Weak transcription	Fetal Thymus	thymus
9	chr8:6699400-6709400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:6699600-6707800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:6699600-6708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:6699600-6708200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:6699600-6708200	Weak transcription	Fetal Lung	lung
14	chr8:6699600-6708200	Weak transcription	Pancreas	Pancrea
15	chr8:6699600-6709600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:6699600-6710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:6699800-6708200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:6699800-6708200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:6699800-6710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:6702200-6708200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:6702400-6707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:6702400-6707600	Weak transcription	Dnd41	blood
24	chr8:6702600-6707600	Weak transcription	Placenta	Placenta
25	chr8:6703600-6708000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:6707600-6708200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:6707600-6708400	Genic enhancers	Dnd41	blood
28	chr8:6707600-6708800	Enhancers	Adipose Nuclei	Adipose
29	chr8:6707600-6710800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:6707600-6711000	Enhancers	Placenta	Placenta
31	chr8:6707800-6708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:6707800-6708000	Enhancers	Fetal Muscle Leg	muscle
33	chr8:6707800-6708200	Strong transcription	Thymus	Thymus
34	chr8:6707800-6708600	Enhancers	Gastric	stomach
35	chr8:6707800-6708800	Strong transcription	Fetal Stomach	stomach
36	chr8:6708000-6708200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:6708000-6708200	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:6708000-6709200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:6708200-6708400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:6708200-6708800	Strong transcription	Fetal Lung	lung
41	chr8:6708200-6709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:6708200-6709000	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:6708200-6709000	Genic enhancers	Pancreas	Pancrea
44	chr8:6708200-6709000	ZNF genes & repeats	Thymus	Thymus
45	chr8:6708200-6709200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr8:6708200-6709200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:6708200-6709200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr8:6708200-6709200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:6708200-6709200	ZNF genes & repeats	Fetal Kidney	kidney
50	chr8:6708200-6709400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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