Variant report

Variant	nsv470825
Chromosome Location	chr6:66269399-66326945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66298118..66300419-chr6:66305829..66308285,2	K562	blood:
2	chr6:66291419..66293216-chr6:66300613..66302642,2	K562	blood:
3	chr6:66249610..66251834-chr6:66299808..66302442,2	K562	blood:
4	chr6:66291419..66293216-chr6:66300613..66302642,2	K562	blood:
5	chr6:66298118..66300419-chr6:66305829..66308285,2	K562	blood:

Extended variants
information (count: 762 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331205	chr6:66269399-66269400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527884890	chr6:66269405-66269406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546261754	chr6:66269413-66269414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559833114	chr6:66269445-66269446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567457296	chr6:66269452-66269453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528992019	chr6:66269535-66269536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191390935	chr6:66269569-66269570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183046472	chr6:66269570-66269571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538132293	chr6:66269657-66269658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551394405	chr6:66269659-66269660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571372503	chr6:66269688-66269689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535151485	chr6:66269719-66269720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114014479	chr6:66269723-66269724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9345651	chr6:66269731-66269732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574166487	chr6:66269744-66269745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536771354	chr6:66269759-66269760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376380147	chr6:66269814-66269815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576368815	chr6:66269818-66269819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147048236	chr6:66269820-66269821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138297857	chr6:66269877-66269878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4710526	chr6:66269890-66269891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541213760	chr6:66269912-66269913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561176296	chr6:66269922-66269923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1473780	chr6:66269964-66269965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546109117	chr6:66269973-66269974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367717036	chr6:66269980-66269981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542352632	chr6:66270047-66270048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200721815	chr6:66270076-66270077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371703389	chr6:66270102-66270103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7773855	chr6:66270103-66270104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377658305	chr6:66270113-66270114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67005825	chr6:66270114-66270115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61322623	chr6:66270118-66270119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4710527	chr6:66270119-66270120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543199188	chr6:66270122-66270123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7750155	chr6:66270141-66270142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113592050	chr6:66270153-66270154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188546719	chr6:66270170-66270171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552429499	chr6:66270173-66270174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201735128	chr6:66270188-66270189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7774008	chr6:66270197-66270198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35095916	chr6:66270198-66270199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7774009	chr6:66270204-66270205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35591474	chr6:66270221-66270222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10538869	chr6:66270223-66270224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201441407	chr6:66270254-66270255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573337415	chr6:66270278-66270279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557452181	chr6:66270395-66270396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192213238	chr6:66270443-66270444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547591882	chr6:66270488-66270489	Weak transcription	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66268400-66277600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:66272000-66272600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:66276000-66276600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr6:66276200-66276800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr6:66276200-66276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:66276600-66277400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:66276800-66277800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:66276800-66278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:66277400-66278000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:66277400-66279200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:66277400-66279200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:66277600-66277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:66277600-66278000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:66277600-66278600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:66277600-66279600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:66277800-66278200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:66277800-66278200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:66278000-66278800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:66278000-66279400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:66278200-66278400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:66278200-66279000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:66278400-66278800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:66278600-66279000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:66278600-66279000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:66278600-66279000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:66278800-66279000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:66278800-66279600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:66278800-66279800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:66278800-66280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:66278800-66280600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:66279000-66279200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:66279000-66279200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:66279000-66279200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:66279000-66280200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:66279200-66279600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:66279200-66279600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:66279200-66279600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:66279200-66279600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:66279200-66280400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:66279400-66280800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:66279600-66280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:66279600-66281000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:66279600-66281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:66279600-66281600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:66279600-66281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:66280200-66280400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:66280400-66281000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:66280400-66281200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:66280400-66281200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:66281000-66281600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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