Variant report

Variant	esv2830182
Chromosome Location	chr8:3623388-3655261
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	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:

Extended variants
information (count: 1927 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1927 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11136663	chr8:3623388-3623389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545765662	chr8:3623404-3623405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73188944	chr8:3623406-3623407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550236923	chr8:3623431-3623432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191302959	chr8:3623437-3623438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543684489	chr8:3623448-3623449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569914161	chr8:3623466-3623467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540113798	chr8:3623467-3623468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183059579	chr8:3623483-3623484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73188945	chr8:3623504-3623505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533389009	chr8:3623506-3623507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34630588	chr8:3623514-3623515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570366852	chr8:3623527-3623528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185157329	chr8:3623548-3623549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543221602	chr8:3623557-3623558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549118207	chr8:3623570-3623571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567542992	chr8:3623574-3623575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535144557	chr8:3623586-3623587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553868232	chr8:3623588-3623589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565519368	chr8:3623602-3623603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73498850	chr8:3623643-3623644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369858130	chr8:3623651-3623652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557760465	chr8:3623663-3623664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189866847	chr8:3623680-3623681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78151224	chr8:3623681-3623682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555565035	chr8:3623683-3623684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573913187	chr8:3623684-3623685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60982217	chr8:3623701-3623702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11774173	chr8:3623707-3623708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553747575	chr8:3623737-3623738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116804963	chr8:3623749-3623750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183366915	chr8:3623750-3623751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531080459	chr8:3623758-3623759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549281708	chr8:3623777-3623778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531692480	chr8:3623786-3623787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567504469	chr8:3623794-3623795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528690600	chr8:3623806-3623807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561619864	chr8:3623819-3623820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565810720	chr8:3623827-3623828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369468098	chr8:3623866-3623867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539171211	chr8:3623871-3623872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12678855	chr8:3623904-3623905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569692967	chr8:3623979-3623980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1871820	chr8:3623999-3624000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35527907	chr8:3624012-3624013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370538996	chr8:3624023-3624024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555724299	chr8:3624028-3624029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12678875	chr8:3624046-3624047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371505446	chr8:3624052-3624053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188063203	chr8:3624054-3624055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
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
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
Ductal carcinoma	22052326	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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:3622600-3623800	Enhancers	HMEC	breast
4	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:3623200-3625000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:3624400-3624600	Enhancers	Brain Germinal Matrix	brain
9	chr8:3624400-3625000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:3624400-3625000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:3624600-3624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr8:3624600-3625000	Enhancers	Brain Anterior Caudate	brain
13	chr8:3624600-3625000	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:3624600-3625000	Enhancers	Fetal Brain Male	brain
15	chr8:3624600-3625000	Enhancers	Fetal Lung	lung
16	chr8:3624600-3625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:3624800-3625200	Enhancers	Brain Substantia Nigra	brain
18	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
19	chr8:3626200-3626800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:3626200-3626800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:3626200-3626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:3631200-3631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:3631200-3631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:3631200-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:3631400-3631800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:3631400-3631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:3631400-3631800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:3631400-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:3631600-3631800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:3631600-3635000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:3631800-3632200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:3632000-3633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:3632000-3633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:3633200-3634400	Enhancers	HMEC	breast
38	chr8:3633400-3633800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:3633400-3634000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:3633400-3634200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:3633400-3634600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:3633600-3634200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:3633800-3635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:3635000-3635200	Enhancers	Brain Hippocampus Middle	brain
45	chr8:3635000-3635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:3635200-3635800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:3635200-3636600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:3635400-3636600	Enhancers	Fetal Intestine Small	intestine
49	chr8:3635400-3636600	Enhancers	Fetal Muscle Leg	muscle
50	chr8:3635600-3642600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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