Variant report

Variant	esv3514414
Chromosome Location	chr8:8385292-8387990
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	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
2	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74890576	chr8:8385295-8385296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73504829	chr8:8385302-8385303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552067191	chr8:8385325-8385326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7000407	chr8:8385336-8385337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs531275336	chr8:8385337-8385338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552067825	chr8:8385339-8385340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548191837	chr8:8385344-8385345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568014332	chr8:8385350-8385351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375191451	chr8:8385356-8385357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114284069	chr8:8385362-8385363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114824551	chr8:8385370-8385371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565621215	chr8:8385373-8385374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528318427	chr8:8385396-8385397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556443322	chr8:8385398-8385399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377540915	chr8:8385404-8385405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576501290	chr8:8385435-8385436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149667015	chr8:8385466-8385467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116754208	chr8:8385520-8385521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11776995	chr8:8385547-8385548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs541026309	chr8:8385594-8385595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375269026	chr8:8385602-8385603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560046371	chr8:8385675-8385676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532259403	chr8:8385700-8385701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145446762	chr8:8385717-8385718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562516379	chr8:8385731-8385732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116626856	chr8:8385743-8385744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548018898	chr8:8385744-8385745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149223036	chr8:8385745-8385746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527309924	chr8:8385752-8385753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191638939	chr8:8385753-8385754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145072058	chr8:8385758-8385759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386721968	chr8:8385759-8385760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373004816	chr8:8385762-8385763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376892899	chr8:8385767-8385768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184500571	chr8:8385784-8385785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7831155	chr8:8385815-8385816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs112931741	chr8:8385918-8385919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188949669	chr8:8386000-8386001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536040753	chr8:8386007-8386008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555487856	chr8:8386009-8386010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572185747	chr8:8386018-8386019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373185316	chr8:8386039-8386040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181491673	chr8:8386042-8386043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557698454	chr8:8386050-8386051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576751436	chr8:8386059-8386060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7845897	chr8:8386073-8386074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs114204351	chr8:8386074-8386075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115057189	chr8:8386125-8386126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541984250	chr8:8386128-8386129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369932606	chr8:8386193-8386194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8374600-8387400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:8376000-8388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8380600-8387200	Weak transcription	Fetal Heart	heart
4	chr8:8382000-8386400	Weak transcription	HepG2	liver
5	chr8:8382400-8388000	Weak transcription	Fetal Lung	lung
6	chr8:8382600-8388000	Weak transcription	Liver	Liver
7	chr8:8382800-8387800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:8382800-8388000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:8384200-8385600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:8384200-8385600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:8384400-8385400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:8384400-8385400	Enhancers	Osteobl	bone
13	chr8:8384400-8385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:8384600-8385400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:8384600-8385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:8384600-8385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:8384600-8385400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:8384600-8385600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:8384600-8385600	Enhancers	HMEC	breast
20	chr8:8384600-8385600	Enhancers	HSMMtube	muscle
21	chr8:8384600-8385800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:8384800-8388000	Weak transcription	A549	lung
23	chr8:8385000-8385600	Enhancers	Brain Germinal Matrix	brain
24	chr8:8385200-8385400	Enhancers	Fetal Intestine Large	intestine
25	chr8:8385200-8385400	Enhancers	HSMM	muscle
26	chr8:8385200-8385400	Enhancers	NH-A	brain
27	chr8:8385200-8386000	Enhancers	Placenta	Placenta
28	chr8:8385200-8387200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:8385200-8388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:8385200-8388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:8385400-8387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:8385400-8387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:8385400-8388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:8385400-8388000	Weak transcription	HSMM	muscle
35	chr8:8385400-8388000	Weak transcription	NH-A	brain
36	chr8:8385400-8388000	Weak transcription	Osteobl	bone
37	chr8:8385400-8388200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:8385600-8387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:8385600-8387400	Weak transcription	HSMMtube	muscle
40	chr8:8385600-8387600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:8385600-8387600	Weak transcription	Brain Germinal Matrix	brain
42	chr8:8385600-8389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:8385600-8394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:8385800-8387400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:8386000-8387800	Weak transcription	Placenta	Placenta
46	chr8:8386400-8386600	Enhancers	HepG2	liver
47	chr8:8386600-8387000	Weak transcription	HepG2	liver
48	chr8:8386600-8389200	Enhancers	Ovary	ovary
49	chr8:8387000-8389200	Enhancers	HepG2	liver
50	chr8:8387200-8388600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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