Variant report

Variant	esv3385404
Chromosome Location	chr8:107880111-107882240
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	chr8:107881925..107884632-chr8:107886674..107888381,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184818258	chr8:107880161-107880162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371637425	chr8:107880183-107880184	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187845090	chr8:107880185-107880186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533132964	chr8:107880214-107880215	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551518139	chr8:107880226-107880227	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569727178	chr8:107880299-107880300	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192758069	chr8:107880306-107880307	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183488087	chr8:107880347-107880348	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548743042	chr8:107880351-107880352	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148655788	chr8:107880395-107880396	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189484053	chr8:107880442-107880443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142172551	chr8:107880448-107880449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115256355	chr8:107880502-107880503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181868061	chr8:107880535-107880536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375829406	chr8:107880540-107880541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557830942	chr8:107880557-107880558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60948209	chr8:107880580-107880581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370262401	chr8:107880593-107880594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576174276	chr8:107880630-107880631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77236239	chr8:107880642-107880643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561865123	chr8:107880652-107880653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561976981	chr8:107880659-107880660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184439121	chr8:107880698-107880699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190187614	chr8:107880737-107880738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578028041	chr8:107880766-107880767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151157752	chr8:107880783-107880784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533173166	chr8:107880807-107880808	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs16875208	chr8:107880864-107880865	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181527561	chr8:107880884-107880885	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186660149	chr8:107880890-107880891	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561145276	chr8:107880894-107880895	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549040867	chr8:107880916-107880917	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189375580	chr8:107880937-107880938	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139093167	chr8:107880964-107880965	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs73702460	chr8:107880997-107880998	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73702461	chr8:107881005-107881006	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560352009	chr8:107881031-107881032	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565983448	chr8:107881052-107881053	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539738570	chr8:107881127-107881128	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79247504	chr8:107881161-107881162	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113385111	chr8:107881279-107881280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77658145	chr8:107881294-107881295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555804567	chr8:107881313-107881314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144065558	chr8:107881332-107881333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541376461	chr8:107881336-107881337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553307967	chr8:107881343-107881344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578033070	chr8:107881360-107881361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545308259	chr8:107881397-107881398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16875210	chr8:107881453-107881454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56852936	chr8:107881477-107881478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107876800-107886400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:107879200-107881800	Weak transcription	A549	lung
3	chr8:107879800-107880400	Active TSS	Aorta	Aorta
4	chr8:107880400-107880800	Enhancers	Aorta	Aorta
5	chr8:107880800-107881200	Active TSS	Aorta	Aorta
6	chr8:107881000-107881200	Enhancers	HSMMtube	muscle
7	chr8:107881200-107881400	Enhancers	Aorta	Aorta
8	chr8:107881200-107886000	Weak transcription	HSMMtube	muscle
9	chr8:107881400-107883000	Weak transcription	Aorta	Aorta
10	chr8:107881800-107882600	Enhancers	A549	lung
11	chr8:107882200-107882800	Enhancers	HSMM	muscle
12	chr8:107882200-107883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:107882200-107883200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:107882200-107883400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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