Variant report

Variant	nsv970040
Chromosome Location	chr6:53999140-53999898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113865020	chr6:53999148-53999149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558136130	chr6:53999193-53999194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531658532	chr6:53999260-53999261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183108217	chr6:53999297-53999298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558644733	chr6:53999364-53999365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188338965	chr6:53999418-53999419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533096372	chr6:53999422-53999423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150309420	chr6:53999432-53999433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544198641	chr6:53999486-53999487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111755209	chr6:53999548-53999549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36073822	chr6:53999602-53999603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9382293	chr6:53999622-53999623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs137884552	chr6:53999635-53999636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574379558	chr6:53999642-53999643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28535557	chr6:53999670-53999671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540518608	chr6:53999682-53999683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9395906	chr6:53999695-53999696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532295348	chr6:53999767-53999768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55902234	chr6:53999782-53999783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556108379	chr6:53999789-53999790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397781439	chr6:53999793-53999794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183061715	chr6:53999844-53999845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559946772	chr6:53999856-53999857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53986200-54000600	Weak transcription	HUVEC	blood vessel
2	chr6:53986400-54000000	Weak transcription	Fetal Heart	heart
3	chr6:53989600-54001600	Weak transcription	Right Ventricle	heart
4	chr6:53989800-54003800	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:53997000-54003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:53997800-54001600	Weak transcription	Left Ventricle	heart
7	chr6:53998000-54000400	Enhancers	Liver	Liver
8	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
9	chr6:53998200-54001800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:53998400-54002400	Weak transcription	Right Atrium	heart
11	chr6:53999000-54000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:53999000-54001600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:53999800-54000600	Weak transcription	Fetal Brain Male	brain
14	chr6:53999800-54000600	Enhancers	HepG2	liver
15	chr6:53999800-54001200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:53999800-54001400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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