Variant report

Variant	nsv885992
Chromosome Location	chr6:63733495-63863434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:63831166..63831711-chr6:63982020..63982633,2	MCF-7	breast:
2	chr6:63775743..63776456-chr6:63981994..63982859,3	MCF-7	breast:

Extended variants
information (count: 1781 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1781 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9447939	chr6:63733495-63733496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560496001	chr6:63733522-63733523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572000181	chr6:63733572-63733573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72879468	chr6:63733578-63733579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535503908	chr6:63733610-63733611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532580426	chr6:63733617-63733618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12664635	chr6:63733632-63733633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147880559	chr6:63733708-63733709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536807795	chr6:63733712-63733713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554390079	chr6:63733713-63733714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112476028	chr6:63733716-63733717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190460864	chr6:63733745-63733746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558125916	chr6:63733771-63733772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546505359	chr6:63733794-63733795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141514343	chr6:63733804-63733805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559549155	chr6:63733805-63733806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529868050	chr6:63733815-63733816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541972214	chr6:63733828-63733829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182750339	chr6:63733840-63733841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147069126	chr6:63733853-63733854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10943404	chr6:63733880-63733881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571661878	chr6:63733889-63733890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532509360	chr6:63733911-63733912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547778732	chr6:63733921-63733922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564239901	chr6:63733950-63733951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576272465	chr6:63733965-63733966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566336556	chr6:63733966-63733967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138377264	chr6:63734001-63734002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114499932	chr6:63734007-63734008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569696146	chr6:63734032-63734033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114741436	chr6:63734042-63734043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558189301	chr6:63734046-63734047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576430835	chr6:63734049-63734050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540593508	chr6:63734073-63734074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75942782	chr6:63734094-63734095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537561976	chr6:63734104-63734105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186210117	chr6:63734179-63734180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191360451	chr6:63734180-63734181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541688947	chr6:63734204-63734205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563215222	chr6:63734212-63734213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143128263	chr6:63734284-63734285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1954194	chr6:63734287-63734288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543946586	chr6:63734302-63734303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565332460	chr6:63734316-63734317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532574171	chr6:63734323-63734324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148235011	chr6:63734346-63734347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182678798	chr6:63734350-63734351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74719308	chr6:63734401-63734402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35315059	chr6:63734406-63734407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548539472	chr6:63734411-63734412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	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	chr6:63722600-63746000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63743800-63744200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:63762400-63763600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:63762600-63762800	Enhancers	HepG2	liver
5	chr6:63762600-63763800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:63762800-63763400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:63762800-63763400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:63762800-63763400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:63762800-63763600	Active TSS	HepG2	liver
10	chr6:63763000-63763200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:63763000-63763400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:63763200-63763400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:63763400-63763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:63763600-63763800	Flanking Active TSS	HepG2	liver
15	chr6:63763800-63764200	Enhancers	HepG2	liver
16	chr6:63768800-63769000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:63776200-63776600	Enhancers	Fetal Intestine Large	intestine
18	chr6:63776200-63776600	Enhancers	Fetal Intestine Small	intestine
19	chr6:63788200-63788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:63792800-63793800	Enhancers	Fetal Intestine Small	intestine
21	chr6:63793200-63794000	Enhancers	Fetal Intestine Large	intestine
22	chr6:63794000-63798400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:63798400-63798800	Enhancers	Fetal Intestine Large	intestine
24	chr6:63798800-63799200	Enhancers	Fetal Intestine Small	intestine
25	chr6:63799000-63799400	Enhancers	Stomach Mucosa	stomach
26	chr6:63803600-63803800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:63805800-63808000	Enhancers	GM12878-XiMat	blood
28	chr6:63806000-63806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:63806800-63807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:63807800-63808000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:63808000-63808400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:63808400-63808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:63809800-63810000	Enhancers	GM12878-XiMat	blood
34	chr6:63838800-63839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:63839400-63840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:63840000-63840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:63840400-63840600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:63840600-63840800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:63843200-63844200	Enhancers	Liver	Liver
40	chr6:63844200-63845200	Weak transcription	Liver	Liver
41	chr6:63848800-63849800	Weak transcription	Liver	Liver
42	chr6:63849800-63851200	Enhancers	Liver	Liver
43	chr6:63854800-63855600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:63855000-63855800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:63855000-63856000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:63855400-63856000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:63855400-63856000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:63858800-63860200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:63859000-63860800	Enhancers	Fetal Intestine Small	intestine
50	chr6:63859000-63861000	Enhancers	Fetal Intestine Large	intestine

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