Variant report

Variant	nsv1028733
Chromosome Location	chr6:65600594-65659199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
2	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
3	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
4	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
5	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:

Extended variants
information (count: 451 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150997160	chr6:65600604-65600605	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111630276	chr6:65600632-65600633	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188765908	chr6:65600661-65600662	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181522406	chr6:65600814-65600815	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537265420	chr6:65600962-65600963	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571733211	chr6:65600964-65600965	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9363295	chr6:65600965-65600966	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373555739	chr6:65600987-65600988	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185332849	chr6:65600998-65600999	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139625780	chr6:65601009-65601010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs67723372	chr6:65601059-65601060	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs80004237	chr6:65601071-65601072	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543290561	chr6:65601092-65601093	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563580053	chr6:65601115-65601116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9354187	chr6:65601118-65601119	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114641343	chr6:65601168-65601169	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555511696	chr6:65601196-65601197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190209650	chr6:65601227-65601228	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528506157	chr6:65601286-65601287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11964458	chr6:65601300-65601301	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74398867	chr6:65601305-65601306	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9354188	chr6:65601306-65601307	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557309314	chr6:65601307-65601308	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11961494	chr6:65601356-65601357	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182394409	chr6:65601371-65601372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376896459	chr6:65601377-65601378	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149715980	chr6:65601382-65601383	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545749593	chr6:65601388-65601389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186430033	chr6:65601448-65601449	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189646168	chr6:65601504-65601505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540670293	chr6:65601508-65601509	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146739555	chr6:65601516-65601517	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs180937071	chr6:65601543-65601544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574479944	chr6:65601578-65601579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115837053	chr6:65601602-65601603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563310192	chr6:65601612-65601613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185345060	chr6:65601619-65601620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543645547	chr6:65601627-65601628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190153203	chr6:65601665-65601666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529561384	chr6:65601690-65601691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9351469	chr6:65601784-65601785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75136547	chr6:65601798-65601799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183256986	chr6:65601905-65601906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188670336	chr6:65601913-65601914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531972916	chr6:65601935-65601936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530939172	chr6:65601963-65601964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9342450	chr6:65601984-65601985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565970602	chr6:65602062-65602063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191769249	chr6:65602073-65602074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533386916	chr6:65602076-65602077	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
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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
5	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:65600400-65601000	Active TSS	NH-A	brain
9	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
10	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
11	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:65601000-65601600	Enhancers	NH-A	brain
18	chr6:65601200-65601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:65601200-65601600	Flanking Active TSS	Hela-S3	cervix
20	chr6:65601600-65602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:65601600-65602600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:65601600-65602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:65601600-65602800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:65601600-65602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:65601600-65603000	Enhancers	HUVEC	blood vessel
26	chr6:65601800-65602200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:65602200-65603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:65602600-65603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:65602600-65603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:65602800-65603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:65602800-65603400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:65603000-65603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:65612200-65613400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:65612600-65613400	Enhancers	Fetal Brain Female	brain
35	chr6:65613200-65613600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel
37	chr6:65614200-65615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:65614600-65615000	Flanking Active TSS	HUVEC	blood vessel
39	chr6:65615000-65615600	Enhancers	HUVEC	blood vessel
40	chr6:65621200-65622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:65623600-65624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:65623800-65624200	Enhancers	Hela-S3	cervix
43	chr6:65626000-65626800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:65626200-65626600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:65631800-65632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:65635600-65636200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:65640600-65641000	Enhancers	Fetal Brain Female	brain
48	chr6:65640800-65642200	Weak transcription	Esophagus	oesophagus
49	chr6:65642200-65642600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:65658800-65659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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