Variant report

Variant	esv1794554
Chromosome Location	chr8:3605151-3643137
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	chr12:57145579..57146089-chr8:3611408..3611928,2	Hela-S3	cervix:
2	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000025423	chromatin interactions
ENSG00000198056	chromatin interactions

Extended variants
information (count: 2513 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:2513 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371060172	chr8:3611410-3611411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199946611	chr8:3611429-3611430	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374619077	chr8:3611443-3611444	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368828677	chr8:3611464-3611465	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371487624	chr8:3611465-3611466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573237339	chr8:3611481-3611482	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558854596	chr8:3611492-3611493	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374268956	chr8:3611497-3611498	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185596078	chr8:3611498-3611499	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371950532	chr8:3611499-3611500	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374474134	chr8:3611504-3611505	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541169305	chr8:3611507-3611508	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377082969	chr8:3611509-3611510	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369440670	chr8:3611522-3611523	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372382724	chr8:3611528-3611529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199930890	chr8:3611536-3611537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370053061	chr8:3611554-3611555	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149896549	chr8:3611568-3611569	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73188909	chr8:3611570-3611571	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543258309	chr8:3611579-3611580	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528276412	chr8:3611583-3611584	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548134669	chr8:3611584-3611585	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369304401	chr8:3611604-3611605	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144905092	chr8:3611616-3611617	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188889015	chr8:3611622-3611623	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149027949	chr8:3611625-3611626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs578066426	chr8:3611632-3611633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181756166	chr8:3611643-3611644	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546809094	chr8:3611660-3611661	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185642237	chr8:3611661-3611662	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368225269	chr8:3611666-3611667	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532210081	chr8:3611667-3611668	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551028189	chr8:3611682-3611683	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569271153	chr8:3611685-3611686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536635989	chr8:3611688-3611689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs151219957	chr8:3611690-3611691	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2720860	chr8:3611697-3611698	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs78104770	chr8:3611705-3611706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs116497000	chr8:3611709-3611710	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570975086	chr8:3611710-3611711	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141383144	chr8:3611727-3611728	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116025790	chr8:3611749-3611750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575278034	chr8:3611752-3611753	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542622450	chr8:3611753-3611754	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80275166	chr8:3611782-3611783	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74874850	chr8:3611787-3611788	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540486748	chr8:3611791-3611792	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371983506	chr8:3611796-3611797	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554465043	chr8:3611833-3611834	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113503365	chr8:3611851-3611852	Inactive region	Chromatin interactive region	2 gene(s)	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3616000-3617200	Enhancers	Fetal Intestine Small	intestine
2	chr8:3616200-3617000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:3616200-3617200	Enhancers	Fetal Intestine Large	intestine
4	chr8:3616800-3617000	Enhancers	Brain Anterior Caudate	brain
5	chr8:3617200-3618400	Weak transcription	Brain Anterior Caudate	brain
6	chr8:3617200-3621000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:3617400-3618200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:3617400-3618400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:3617600-3618000	Enhancers	Fetal Lung	lung
10	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:3618400-3618600	Enhancers	Brain Anterior Caudate	brain
12	chr8:3618400-3618800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:3621000-3621600	Enhancers	Fetal Intestine Small	intestine
14	chr8:3621200-3622200	Enhancers	Fetal Muscle Leg	muscle
15	chr8:3621600-3621800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:3621600-3621800	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:3622000-3623200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:3622200-3623200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:3622600-3623800	Enhancers	HMEC	breast
21	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:3623200-3625000	Enhancers	Fetal Muscle Leg	muscle
25	chr8:3624400-3624600	Enhancers	Brain Germinal Matrix	brain
26	chr8:3624400-3625000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:3624400-3625000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:3624600-3624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:3624600-3625000	Enhancers	Brain Anterior Caudate	brain
30	chr8:3624600-3625000	Active TSS	Brain Cingulate Gyrus	brain
31	chr8:3624600-3625000	Enhancers	Fetal Brain Male	brain
32	chr8:3624600-3625000	Enhancers	Fetal Lung	lung
33	chr8:3624600-3625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:3624800-3625200	Enhancers	Brain Substantia Nigra	brain
35	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
36	chr8:3626200-3626800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:3626200-3626800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:3626200-3626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:3631200-3631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:3631200-3631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:3631200-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:3631400-3631800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:3631400-3631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:3631400-3631800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:3631400-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:3631600-3631800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr8:3631600-3635000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links