Variant report

Variant	esv2421554
Chromosome Location	chr8:115693718-115728363
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	chr7:120719872..120722285-chr8:115706379..115707879,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530170942	chr8:115693735-115693736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570731784	chr8:115693778-115693779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528973449	chr8:115693782-115693783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28605498	chr8:115693802-115693803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568690566	chr8:115693809-115693810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539384890	chr8:115693836-115693837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557597997	chr8:115693837-115693838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114124622	chr8:115693840-115693841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140419425	chr8:115693886-115693887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563385131	chr8:115693902-115693903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114775713	chr8:115693904-115693905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540542407	chr8:115693987-115693988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537950371	chr8:115693996-115693997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532289313	chr8:115694000-115694001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193103945	chr8:115694043-115694044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556822415	chr8:115694081-115694082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539209548	chr8:115694099-115694100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545729874	chr8:115694137-115694138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151157183	chr8:115694167-115694168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185086120	chr8:115694220-115694221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140209493	chr8:115694351-115694352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375219499	chr8:115694475-115694476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35601754	chr8:115694478-115694479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565930352	chr8:115694503-115694504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529452124	chr8:115694507-115694508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34578524	chr8:115694559-115694560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34037408	chr8:115694582-115694583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72690215	chr8:115694595-115694596	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7826812	chr8:115694602-115694603	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150348157	chr8:115694619-115694620	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532935013	chr8:115694646-115694647	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138059984	chr8:115694650-115694651	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566388465	chr8:115694696-115694697	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs77039852	chr8:115694709-115694710	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs398068179	chr8:115694713-115694714	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533836616	chr8:115694720-115694721	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549405009	chr8:115694731-115694732	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567531632	chr8:115694737-115694738	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149531212	chr8:115694744-115694745	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537183574	chr8:115694745-115694746	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190068025	chr8:115694751-115694752	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146081556	chr8:115694845-115694846	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116425114	chr8:115694859-115694860	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557087737	chr8:115694860-115694861	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572747728	chr8:115694869-115694870	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376951039	chr8:115694876-115694877	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115885523	chr8:115694885-115694886	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561759190	chr8:115694952-115694953	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs7826427	chr8:115724639-115724640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567979255	chr8:115724647-115724648	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115693000-115694400	Enhancers	Dnd41	blood
2	chr8:115693800-115694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:115694400-115695000	ZNF genes & repeats	Aorta	Aorta
4	chr8:115694400-115695000	ZNF genes & repeats	Dnd41	blood
5	chr8:115694600-115694800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:115694600-115695000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:115694800-115695000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:115694800-115695000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:115694800-115695000	ZNF genes & repeats	Lung	lung
10	chr8:115724600-115725800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:115724800-115725200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:115724800-115725600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:115725000-115726400	Enhancers	Hela-S3	cervix
14	chr8:115725600-115729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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