Variant report

Variant	nsv603598
Chromosome Location	chr6:68505842-68549473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
2	chr6:68533843..68535675-chr6:68541395..68544034,2	K562	blood:
3	chr6:68536799..68539603-chr6:68596388..68598397,3	K562	blood:
4	chr6:68547547..68550357-chr6:68551915..68554138,2	K562	blood:
5	chr6:68524696..68527384-chr6:68621549..68624145,2	K562	blood:
6	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
7	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
8	chr6:68547444..68549949-chr6:68573736..68576048,2	K562	blood:
9	chr6:68536915..68539495-chr6:68589360..68592356,2	K562	blood:
10	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
11	chr6:68526302..68528861-chr6:68589290..68590990,2	K562	blood:
12	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
13	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
14	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
15	chr6:68533843..68535675-chr6:68541395..68544034,2	K562	blood:
16	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
17	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
18	chr6:68546534..68549959-chr6:68591405..68594115,3	K562	blood:
19	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
20	chr10:129266757..129267591-chr6:68536748..68537711,2	NB4	blood:

No data

Extended variants
information (count: 918 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12207785	chr6:68505842-68505843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574381059	chr6:68505882-68505883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541073691	chr6:68505898-68505899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9454285	chr6:68505910-68505911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543186888	chr6:68505918-68505919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562913411	chr6:68505927-68505928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182540143	chr6:68505934-68505935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73746343	chr6:68505936-68505937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138130620	chr6:68505949-68505950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9454286	chr6:68505950-68505951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs547029828	chr6:68505953-68505954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567006193	chr6:68506066-68506067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529779147	chr6:68506078-68506079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549867184	chr6:68506089-68506090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28433393	chr6:68506122-68506123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374587316	chr6:68506140-68506141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544874926	chr6:68506151-68506152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143601986	chr6:68506153-68506154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143968490	chr6:68506174-68506175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148216236	chr6:68506213-68506214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564599536	chr6:68506221-68506222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187093885	chr6:68506289-68506290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372568214	chr6:68506298-68506299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554238408	chr6:68506308-68506309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574107841	chr6:68506358-68506359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542722080	chr6:68506363-68506364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114134136	chr6:68506393-68506394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576515254	chr6:68506445-68506446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192265119	chr6:68506456-68506457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376746037	chr6:68506490-68506491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9454287	chr6:68506501-68506502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73446734	chr6:68506546-68506547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111773559	chr6:68506552-68506553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529704849	chr6:68506561-68506562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549569615	chr6:68506573-68506574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199920201	chr6:68506623-68506624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75845107	chr6:68506627-68506628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563398298	chr6:68506633-68506634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78805574	chr6:68506686-68506687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12203654	chr6:68506715-68506716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs565961861	chr6:68506773-68506774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534889830	chr6:68506791-68506792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6901308	chr6:68506968-68506969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567624716	chr6:68506987-68506988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536654332	chr6:68506990-68506991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556380666	chr6:68506991-68506992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139046192	chr6:68507013-68507014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6920734	chr6:68507026-68507027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6906108	chr6:68507040-68507041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572327445	chr6:68507053-68507054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Prostate cancer	16573809	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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:68505400-68506400	Enhancers	K562	blood
7	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:68506400-68508800	Weak transcription	K562	blood
9	chr6:68508800-68509600	Enhancers	K562	blood
10	chr6:68525600-68526000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:68526000-68527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:68527000-68527600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:68527400-68527600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:68527600-68538200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:68535400-68535600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:68535600-68537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:68538200-68538400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:68543600-68545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:68543600-68545000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:68543600-68545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:68543600-68545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:68543800-68545000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:68544200-68544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:68544400-68544800	Enhancers	K562	blood
25	chr6:68544400-68545200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:68544600-68545000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:68544600-68545000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:68549200-68549600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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