Variant report

Variant	esv34515
Chromosome Location	chr6:63723341-63849774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:63726588..63729343-chr6:63730639..63732811,2	K562	blood:
2	chr6:63775743..63776456-chr6:63981994..63982859,3	MCF-7	breast:
3	chr6:63831166..63831711-chr6:63982020..63982633,2	MCF-7	breast:
4	chr6:63726588..63729343-chr6:63730639..63732811,2	K562	blood:

Extended variants
information (count: 1983 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1983 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2185573	chr6:63723345-63723346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561449653	chr6:63723359-63723360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4235961	chr6:63723378-63723379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182122633	chr6:63723413-63723414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564787048	chr6:63723427-63723428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4235962	chr6:63723442-63723443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547051381	chr6:63723467-63723468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565653703	chr6:63723484-63723485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141988146	chr6:63723503-63723504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186671087	chr6:63723508-63723509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569514454	chr6:63723509-63723510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537992131	chr6:63723550-63723551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540628091	chr6:63723551-63723552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530891145	chr6:63723553-63723554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200100575	chr6:63723563-63723564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201236369	chr6:63723564-63723565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112819446	chr6:63723566-63723567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571602772	chr6:63723585-63723586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191612427	chr6:63723610-63723611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553844894	chr6:63723643-63723644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368178423	chr6:63723649-63723650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181247555	chr6:63723668-63723669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112917420	chr6:63723712-63723713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4327675	chr6:63723731-63723732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375981155	chr6:63723741-63723742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79510347	chr6:63723752-63723753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115815953	chr6:63723754-63723755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532834508	chr6:63723767-63723768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544818704	chr6:63723769-63723770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4409168	chr6:63723852-63723853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113185575	chr6:63723918-63723919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531708472	chr6:63723942-63723943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565015475	chr6:63723957-63723958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532077456	chr6:63723963-63723964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185113070	chr6:63723974-63723975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549306929	chr6:63723986-63723987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4424060	chr6:63724017-63724018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189533451	chr6:63724051-63724052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532872581	chr6:63724063-63724064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548073458	chr6:63724070-63724071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569571629	chr6:63724113-63724114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528497071	chr6:63724120-63724121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10223589	chr6:63724141-63724142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183354219	chr6:63724143-63724144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571727647	chr6:63724159-63724160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538740632	chr6:63724217-63724218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116790774	chr6:63724225-63724226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566075262	chr6:63724233-63724234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375505016	chr6:63724259-63724260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187602072	chr6:63724272-63724273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63722200-63724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63722400-63724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:63722600-63724000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:63722600-63724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:63722600-63746000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:63724000-63724400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:63724000-63724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63724000-63724400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:63724000-63724400	Enhancers	Fetal Heart	heart
10	chr6:63724000-63724600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:63724000-63724800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:63724200-63724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:63743800-63744200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:63762400-63763600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:63762600-63762800	Enhancers	HepG2	liver
16	chr6:63762600-63763800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:63762800-63763400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:63762800-63763400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:63762800-63763400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:63762800-63763600	Active TSS	HepG2	liver
21	chr6:63763000-63763200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:63763000-63763400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:63763200-63763400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:63763400-63763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:63763600-63763800	Flanking Active TSS	HepG2	liver
26	chr6:63763800-63764200	Enhancers	HepG2	liver
27	chr6:63768800-63769000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:63776200-63776600	Enhancers	Fetal Intestine Large	intestine
29	chr6:63776200-63776600	Enhancers	Fetal Intestine Small	intestine
30	chr6:63788200-63788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:63792800-63793800	Enhancers	Fetal Intestine Small	intestine
32	chr6:63793200-63794000	Enhancers	Fetal Intestine Large	intestine
33	chr6:63794000-63798400	Weak transcription	Fetal Intestine Large	intestine
34	chr6:63798400-63798800	Enhancers	Fetal Intestine Large	intestine
35	chr6:63798800-63799200	Enhancers	Fetal Intestine Small	intestine
36	chr6:63799000-63799400	Enhancers	Stomach Mucosa	stomach
37	chr6:63803600-63803800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:63805800-63808000	Enhancers	GM12878-XiMat	blood
39	chr6:63806000-63806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:63806800-63807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:63807800-63808000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:63808000-63808400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:63808400-63808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:63809800-63810000	Enhancers	GM12878-XiMat	blood
45	chr6:63838800-63839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:63839400-63840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:63840000-63840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:63840400-63840600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:63840600-63840800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:63843200-63844200	Enhancers	Liver	Liver

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