Variant report

Variant	esv2752253
Chromosome Location	chr8:3829864-3855986
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	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:

Extended variants
information (count: 2744 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2744 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17068294	chr8:3829864-3829865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143782845	chr8:3829879-3829880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542245631	chr8:3829883-3829884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554566892	chr8:3829896-3829897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59909384	chr8:3829900-3829901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147247479	chr8:3829935-3829936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374318952	chr8:3829945-3829946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537088430	chr8:3829971-3829972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556970196	chr8:3829984-3829985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544837857	chr8:3829988-3829989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563024317	chr8:3829993-3829994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530438324	chr8:3830003-3830004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2740814	chr8:3830004-3830005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140753678	chr8:3830007-3830008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34959669	chr8:3830018-3830019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537948636	chr8:3830021-3830022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552693011	chr8:3830030-3830031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571001955	chr8:3830060-3830061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538431737	chr8:3830063-3830064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111713226	chr8:3830072-3830073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550788457	chr8:3830079-3830080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17068296	chr8:3830080-3830081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193261659	chr8:3830083-3830084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144717657	chr8:3830092-3830093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572515260	chr8:3830097-3830098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184981073	chr8:3830113-3830114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113727437	chr8:3830114-3830115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559241098	chr8:3830133-3830134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145775937	chr8:3830136-3830137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530802947	chr8:3830138-3830139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576563402	chr8:3830143-3830144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544445301	chr8:3830159-3830160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190323337	chr8:3830162-3830163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148451268	chr8:3830167-3830168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142628066	chr8:3830176-3830177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556377282	chr8:3830178-3830179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150997812	chr8:3830180-3830181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527680557	chr8:3830182-3830183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140888407	chr8:3830184-3830185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181150531	chr8:3830191-3830192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144925689	chr8:3830195-3830196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531850540	chr8:3830205-3830206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550475866	chr8:3830208-3830209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572783226	chr8:3830219-3830220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74868790	chr8:3830221-3830222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536116851	chr8:3830237-3830238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79892810	chr8:3830241-3830242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146665381	chr8:3830271-3830272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140250705	chr8:3830278-3830279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185812441	chr8:3830282-3830283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3822800-3830000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:3829400-3831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:3829600-3833800	Weak transcription	HepG2	liver
4	chr8:3830000-3831200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:3830000-3831400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:3830200-3831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:3830200-3831600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:3830400-3831600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:3830800-3831400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:3833800-3834600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:3833800-3839400	Enhancers	HepG2	liver
12	chr8:3834000-3834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:3834600-3838600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:3836800-3838000	Enhancers	Fetal Intestine Large	intestine
15	chr8:3837800-3838000	Enhancers	Fetal Brain Male	brain
16	chr8:3838600-3838800	Enhancers	Fetal Brain Male	brain
17	chr8:3838600-3839000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:3839400-3843000	Weak transcription	HepG2	liver
19	chr8:3841400-3841800	Enhancers	Liver	Liver
20	chr8:3841800-3844400	Weak transcription	Liver	Liver
21	chr8:3843000-3844600	Enhancers	HepG2	liver
22	chr8:3844400-3844600	Enhancers	Liver	Liver
23	chr8:3844600-3844800	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:3844600-3844800	Enhancers	Stomach Mucosa	stomach
25	chr8:3844600-3845200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:3844600-3845200	Flanking Active TSS	HepG2	liver
27	chr8:3844600-3845400	Enhancers	Gastric	stomach
28	chr8:3844600-3845600	Enhancers	Pancreas	Pancrea
29	chr8:3844600-3845800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:3844600-3846000	Flanking Active TSS	Liver	Liver
31	chr8:3844600-3846200	Enhancers	Ovary	ovary
32	chr8:3844600-3846400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:3844800-3845000	Enhancers	Colonic Mucosa	Colon
34	chr8:3844800-3845000	Enhancers	Fetal Lung	lung
35	chr8:3844800-3845000	Flanking Active TSS	Stomach Mucosa	stomach
36	chr8:3844800-3845000	Enhancers	Stomach Smooth Muscle	stomach
37	chr8:3844800-3845200	Active TSS	Duodenum Mucosa	Duodenum
38	chr8:3844800-3845400	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:3844800-3846000	Enhancers	Fetal Stomach	stomach
40	chr8:3844800-3846400	Enhancers	Fetal Intestine Small	intestine
41	chr8:3844800-3846600	Enhancers	Fetal Intestine Large	intestine
42	chr8:3844800-3847400	Enhancers	Brain Angular Gyrus	brain
43	chr8:3845000-3845200	Enhancers	Adipose Nuclei	Adipose
44	chr8:3845000-3845400	Active TSS	Colonic Mucosa	Colon
45	chr8:3845000-3845400	Flanking Active TSS	Fetal Lung	lung
46	chr8:3845000-3845600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:3845000-3845600	Enhancers	Stomach Mucosa	stomach
48	chr8:3845000-3845800	Enhancers	Colon Smooth Muscle	Colon
49	chr8:3845200-3845400	Enhancers	Fetal Heart	heart
50	chr8:3845200-3845600	Flanking Active TSS	Adipose Nuclei	Adipose

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