Variant report

Variant	esv3423089
Chromosome Location	chr8:49351999-49356297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49331272..49334248-chr8:49353001..49355227,2	MCF-7	breast:
2	chr8:49349539..49351813-chr8:49352061..49354679,2	MCF-7	breast:
3	chr8:49349665..49353206-chr8:49353264..49356600,3	K562	blood:
4	chr8:49351110..49353457-chr8:49360622..49362528,2	K562	blood:
5	chr8:49349665..49351750-chr8:49353951..49356600,2	K562	blood:
6	chr8:49349665..49353206-chr8:49353264..49356600,3	K562	blood:
7	chr8:49347064..49348779-chr8:49356019..49358997,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs556074680	chr8:49352026-49352027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532697635	chr8:49352028-49352029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145966683	chr8:49352032-49352033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183515124	chr8:49352175-49352176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530068976	chr8:49352181-49352182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16937140	chr8:49352229-49352230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566668863	chr8:49352244-49352245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534498291	chr8:49352254-49352255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546485146	chr8:49352340-49352341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571470001	chr8:49352348-49352349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538575089	chr8:49352353-49352354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187281909	chr8:49352364-49352365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191705800	chr8:49352392-49352393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183846020	chr8:49352428-49352429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540290945	chr8:49352436-49352437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573286884	chr8:49352452-49352453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139890438	chr8:49352463-49352464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572984352	chr8:49352470-49352471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540783644	chr8:49352484-49352485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558907373	chr8:49352490-49352491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535872836	chr8:49352492-49352493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577432126	chr8:49352511-49352512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544562081	chr8:49352527-49352528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563224476	chr8:49352563-49352564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530032698	chr8:49352587-49352588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186800488	chr8:49352712-49352713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191270093	chr8:49352724-49352725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560170603	chr8:49352728-49352729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185804774	chr8:49352736-49352737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546743013	chr8:49352861-49352862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372350004	chr8:49352919-49352920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376658803	chr8:49352951-49352952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190328579	chr8:49352961-49352962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75799036	chr8:49352966-49352967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550600325	chr8:49352997-49352998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569216681	chr8:49352998-49352999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536215642	chr8:49353007-49353008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554609992	chr8:49353022-49353023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182246241	chr8:49353058-49353059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533665508	chr8:49353142-49353143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561772370	chr8:49353165-49353166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141245317	chr8:49353177-49353178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545233460	chr8:49353179-49353180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150762971	chr8:49353181-49353182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556428909	chr8:49353194-49353195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564995206	chr8:49353204-49353205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142188130	chr8:49353205-49353206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139158863	chr8:49353241-49353242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541773157	chr8:49353286-49353287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149945266	chr8:49353295-49353296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49343800-49354000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49345000-49352400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:49346400-49352400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:49347800-49352400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:49350200-49353600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:49350400-49352200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:49350800-49352000	Enhancers	Ovary	ovary
8	chr8:49350800-49353200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:49350800-49353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:49350800-49353600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:49351200-49353600	Enhancers	Lung	lung
12	chr8:49351200-49354000	Enhancers	Fetal Lung	lung
13	chr8:49351400-49352000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:49351400-49353600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:49351400-49353600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:49351400-49353800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:49351600-49353000	Weak transcription	Spleen	Spleen
18	chr8:49351600-49353200	Enhancers	Osteobl	bone
19	chr8:49351600-49353600	Enhancers	NHLF	lung
20	chr8:49351600-49363000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:49351800-49352000	Enhancers	Fetal Stomach	stomach
22	chr8:49351800-49353200	Enhancers	NH-A	brain
23	chr8:49351800-49353400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:49351800-49353600	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:49351800-49354000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:49352000-49352800	Weak transcription	Fetal Stomach	stomach
27	chr8:49352000-49352800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:49352200-49352400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:49352400-49352600	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:49352400-49352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:49352400-49353000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:49352400-49353600	Enhancers	Adipose Nuclei	Adipose
33	chr8:49352400-49353600	Enhancers	Right Atrium	heart
34	chr8:49352800-49353000	Enhancers	Fetal Stomach	stomach
35	chr8:49352800-49353200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:49352800-49353600	Enhancers	Pancreas	Pancrea
37	chr8:49352800-49353600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:49352800-49353800	Enhancers	Left Ventricle	heart
39	chr8:49353000-49353600	Enhancers	Spleen	Spleen
40	chr8:49353400-49357400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:49353600-49357800	Weak transcription	Lung	lung
42	chr8:49353600-49363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:49353600-49363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:49353800-49354400	Enhancers	Fetal Heart	heart
45	chr8:49353800-49363000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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