Variant report

Variant	nsv523425
Chromosome Location	chr6:142074024-142130009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
2	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:
3	chr6:141998460..141999421-chr6:142110108..142110780,4	MCF-7	breast:
4	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:

Extended variants
information (count: 1509 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6926578	chr6:142074024-142074025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573681174	chr6:142074034-142074035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544189620	chr6:142074080-142074081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562381616	chr6:142074157-142074158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540700159	chr6:142074191-142074192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150556551	chr6:142074200-142074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532964258	chr6:142074242-142074243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151257387	chr6:142074253-142074254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545670604	chr6:142074272-142074273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560788666	chr6:142074275-142074276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17071153	chr6:142074315-142074316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183700706	chr6:142074332-142074333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567747838	chr6:142074343-142074344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531754077	chr6:142074355-142074356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188070582	chr6:142074373-142074374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550258525	chr6:142074442-142074443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191823018	chr6:142074469-142074470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183953367	chr6:142074504-142074505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373444287	chr6:142074524-142074525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551229970	chr6:142074525-142074526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548664241	chr6:142074526-142074527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533969808	chr6:142074538-142074539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555318859	chr6:142074548-142074549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190170756	chr6:142074554-142074555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181931056	chr6:142074581-142074582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556293991	chr6:142074613-142074614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568754495	chr6:142074615-142074616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75580823	chr6:142074622-142074623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577684768	chr6:142074634-142074635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78354907	chr6:142074661-142074662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560751718	chr6:142074682-142074683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186572758	chr6:142074697-142074698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567467618	chr6:142074704-142074705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190691146	chr6:142074719-142074720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573906328	chr6:142074731-142074732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115222286	chr6:142074732-142074733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531937562	chr6:142074811-142074812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78927881	chr6:142074818-142074819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115228214	chr6:142074857-142074858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181827401	chr6:142074888-142074889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185413499	chr6:142074906-142074907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553129788	chr6:142074908-142074909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74870054	chr6:142074922-142074923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386706499	chr6:142074935-142074936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182851298	chr6:142074936-142074937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543005954	chr6:142074938-142074939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62431010	chr6:142074940-142074941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79006005	chr6:142074954-142074955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34831740	chr6:142074982-142074983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534463993	chr6:142074994-142074995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142073600-142074200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:142073600-142074400	Enhancers	Liver	Liver
3	chr6:142074000-142079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:142074600-142075200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:142079600-142079800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:142079600-142080400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:142079800-142097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:142086600-142087000	Enhancers	Fetal Brain Male	brain
9	chr6:142090200-142090800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:142092200-142094600	Weak transcription	NHLF	lung
11	chr6:142104400-142105400	Enhancers	Liver	Liver
12	chr6:142105400-142108800	Weak transcription	Liver	Liver
13	chr6:142106200-142107000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:142106600-142107200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:142106600-142107400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:142106800-142107200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:142106800-142107200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:142107200-142111800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:142107200-142112200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:142107400-142111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:142108800-142109400	Enhancers	Liver	Liver
22	chr6:142109200-142110000	Enhancers	HepG2	liver
23	chr6:142109400-142109800	Flanking Active TSS	Liver	Liver
24	chr6:142109800-142110000	Enhancers	Liver	Liver
25	chr6:142110600-142110800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:142110600-142111000	ZNF genes & repeats	Pancreas	Pancrea
27	chr6:142110800-142111000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:142111000-142111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:142111800-142112600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:142111800-142112600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:142111800-142112800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:142112200-142112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:142112200-142112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:142112800-142115400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:142124800-142133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:142125000-142125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:142125000-142126800	Enhancers	HSMM	muscle
38	chr6:142125800-142126600	Enhancers	HSMMtube	muscle
39	chr6:142126800-142131000	Weak transcription	HSMM	muscle
40	chr6:142128600-142130000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:142128800-142130000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:142128800-142130200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:142129000-142130200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:142129400-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:142129600-142130000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:142129600-142130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:142129800-142130000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:142130000-142132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:142130000-142132000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:142130000-142132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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