Variant report

Variant	esv275553
Chromosome Location	chr8:104690593-104693685
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	chr8:104689628..104692491-chr8:104693906..104695801,3	K562	blood:
2	chr8:104689628..104692134-chr8:104693906..104695603,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7834353	chr8:104690593-104690594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143840476	chr8:104690641-104690642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531451041	chr8:104690720-104690721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73286408	chr8:104690777-104690778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112089103	chr8:104690919-104690920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550854942	chr8:104690922-104690923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188453923	chr8:104690923-104690924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79067522	chr8:104690935-104690936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs78749259	chr8:104690979-104690980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs371418303	chr8:104690982-104690983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548301075	chr8:104691028-104691029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144267586	chr8:104691069-104691070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537575729	chr8:104691148-104691149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555535503	chr8:104691178-104691179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567331276	chr8:104691211-104691212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28517319	chr8:104691254-104691255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192144368	chr8:104691346-104691347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553698197	chr8:104691380-104691381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571988447	chr8:104691388-104691389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545743522	chr8:104691397-104691398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535846939	chr8:104691423-104691424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12677138	chr8:104691468-104691469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7009840	chr8:104691474-104691475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs182886221	chr8:104691609-104691610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561754149	chr8:104691614-104691615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187745272	chr8:104691644-104691645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148748954	chr8:104691676-104691677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1426293	chr8:104691709-104691710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563309795	chr8:104691725-104691726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551761076	chr8:104691772-104691773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563912519	chr8:104691782-104691783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530974152	chr8:104691822-104691823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6985834	chr8:104691895-104691896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs567419092	chr8:104691965-104691966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534725904	chr8:104692036-104692037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376043553	chr8:104692041-104692042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35357370	chr8:104692042-104692043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72679453	chr8:104692141-104692142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28693917	chr8:104692197-104692198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142609631	chr8:104692225-104692226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150994932	chr8:104692307-104692308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139621687	chr8:104692308-104692309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115483856	chr8:104692385-104692386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555526613	chr8:104692414-104692415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56125510	chr8:104692435-104692436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573762875	chr8:104692453-104692454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192583162	chr8:104692514-104692515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77208084	chr8:104692543-104692544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559415485	chr8:104692616-104692617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577522062	chr8:104692680-104692681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104654200-104706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104682600-104706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:104687400-104691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:104687800-104691800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:104688800-104691800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:104689600-104695200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:104689800-104690600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:104689800-104690800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:104689800-104697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:104690000-104691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:104690000-104698600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:104690400-104690800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:104690600-104690800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:104690800-104691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:104690800-104691600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:104691600-104691800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:104691600-104695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:104691800-104692000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:104691800-104695400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:104691800-104695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:104691800-104696600	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links