Variant report

Variant	esv3434839
Chromosome Location	chr6:142133308-142165107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
2	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
3	chr6:142134176..142136640-chr6:142390128..142392173,2	K562	blood:
4	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
5	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:

Extended variants
information (count: 614 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558382079	chr6:142133327-142133328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556599294	chr6:142133376-142133377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574295804	chr6:142133402-142133403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148976558	chr6:142133414-142133415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576496727	chr6:142133418-142133419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541184887	chr6:142133419-142133420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75756826	chr6:142133440-142133441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376807066	chr6:142133450-142133451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143744315	chr6:142133556-142133557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541988795	chr6:142133575-142133576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563270782	chr6:142133580-142133581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189308688	chr6:142133589-142133590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535963112	chr6:142133601-142133602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180929577	chr6:142133609-142133610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185213592	chr6:142133610-142133611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528806783	chr6:142133633-142133634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114518536	chr6:142133656-142133657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138433273	chr6:142133690-142133691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529335216	chr6:142133692-142133693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190367394	chr6:142133702-142133703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570709871	chr6:142133740-142133741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141377866	chr6:142133795-142133796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539407945	chr6:142133806-142133807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539285491	chr6:142133829-142133830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181246334	chr6:142133830-142133831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117445046	chr6:142133831-142133832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145167252	chr6:142133851-142133852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553124732	chr6:142133881-142133882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574594162	chr6:142133958-142133959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535651241	chr6:142133961-142133962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557055358	chr6:142133998-142133999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575429504	chr6:142134012-142134013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138807419	chr6:142134055-142134056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372861678	chr6:142134085-142134086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74369335	chr6:142134089-142134090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573464858	chr6:142134094-142134095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75423038	chr6:142134098-142134099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117231685	chr6:142134162-142134163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529398723	chr6:142134228-142134229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6939826	chr6:142134267-142134268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138191693	chr6:142134309-142134310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543687896	chr6:142134330-142134331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533272320	chr6:142134350-142134351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551737759	chr6:142134484-142134485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566794280	chr6:142134487-142134488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367780847	chr6:142134496-142134497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201904812	chr6:142134524-142134525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371010466	chr6:142134525-142134526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186949272	chr6:142134612-142134613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs118072323	chr6:142134624-142134625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
early-passage human iPS cells	21368824	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142132600-142133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:142132800-142133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:142133200-142134200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:142133200-142134800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:142134200-142135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:142134800-142135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:142135400-142136200	Active TSS	K562	blood
8	chr6:142143600-142145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:142143600-142146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:142145200-142145800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:142145200-142145800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr6:142145200-142145800	Enhancers	Hela-S3	cervix
13	chr6:142145400-142145800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr6:142145400-142145800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:142145600-142145800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr6:142145600-142145800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr6:142145800-142149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:142145800-142149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:142145800-142149800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:142145800-142150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:142145800-142150400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:142146400-142148800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:142148200-142148600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr6:142148600-142150400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:142148600-142152400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:142148800-142152400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:142148800-142152400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:142149800-142150400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:142149800-142151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:142149800-142152400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:142150200-142150400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:142150200-142151800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:142150200-142152200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:142150200-142154400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:142150400-142150600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:142150400-142150800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:142150400-142150800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:142150400-142151000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:142150400-142151600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:142150400-142151800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:142150600-142150800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr6:142150600-142151200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:142150600-142152000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr6:142150800-142152200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:142150800-142152400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:142150800-142152400	Enhancers	Placenta	Placenta
47	chr6:142150800-142152600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:142151000-142151400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:142151000-142151600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:142151000-142154600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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