Variant report

Variant	nsv1034549
Chromosome Location	chr6:68538773-68577180
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68564294..68566367-chr6:68570127..68572578,2	MCF-7	breast:
2	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
3	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
4	chr6:68569432..68571622-chr6:68584062..68586266,2	K562	blood:
5	chr6:68533843..68535675-chr6:68541395..68544034,2	K562	blood:
6	chr6:68547444..68549949-chr6:68573736..68576048,2	K562	blood:
7	chr6:68573446..68581402-chr6:68582909..68592336,10	K562	blood:
8	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
9	chr6:67796143..67796843-chr6:68573181..68573682,2	MCF-7	breast:
10	chr6:68556597..68558749-chr6:68589649..68591712,2	K562	blood:
11	chr6:68571846..68575776-chr6:68585340..68589247,5	K562	blood:
12	chr6:68546534..68549959-chr6:68591405..68594115,3	K562	blood:
13	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
14	chr6:68564294..68566367-chr6:68570127..68572578,2	MCF-7	breast:
15	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
16	chr6:68547444..68549949-chr6:68573736..68576048,2	K562	blood:
17	chr6:68567182..68570934-chr6:68589376..68594123,5	K562	blood:
18	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
19	chr6:68562527..68565215-chr6:68588017..68590595,2	K562	blood:
20	chr6:68547547..68550357-chr6:68551915..68554138,2	K562	blood:
21	chr6:68547547..68550357-chr6:68551915..68554138,2	K562	blood:
22	chr6:68536799..68539603-chr6:68596388..68598397,3	K562	blood:
23	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
24	chr6:68568907..68571616-chr6:68584376..68587253,2	K562	blood:
25	chr6:68536915..68539495-chr6:68589360..68592356,2	K562	blood:
26	chr6:68571923..68574390-chr6:68700844..68702583,2	K562	blood:

No data

Extended variants
information (count: 232 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1877777	chr6:68543600-68543601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149681695	chr6:68543652-68543653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113498092	chr6:68543654-68543655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62414262	chr6:68543672-68543673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528027431	chr6:68543707-68543708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566161284	chr6:68543713-68543714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572170366	chr6:68543722-68543723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112531352	chr6:68543736-68543737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150908930	chr6:68543748-68543749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575267866	chr6:68543781-68543782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191150508	chr6:68543817-68543818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557676392	chr6:68543863-68543864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546583969	chr6:68543919-68543920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377155996	chr6:68543972-68543973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183713140	chr6:68544021-68544022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374993793	chr6:68544038-68544039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187215912	chr6:68544065-68544066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559760615	chr6:68544080-68544081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73450489	chr6:68544126-68544127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541872838	chr6:68544147-68544148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562180340	chr6:68544160-68544161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530909182	chr6:68544161-68544162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11967807	chr6:68544237-68544238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538746660	chr6:68544251-68544252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13214262	chr6:68544264-68544265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190987858	chr6:68544277-68544278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569139234	chr6:68544279-68544280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561188692	chr6:68544305-68544306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570555223	chr6:68544307-68544308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566840047	chr6:68544317-68544318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183130220	chr6:68544321-68544322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71536427	chr6:68544324-68544325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548704674	chr6:68544332-68544333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114716417	chr6:68544348-68544349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148816851	chr6:68544365-68544366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557928027	chr6:68544379-68544380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571495482	chr6:68544380-68544381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534063596	chr6:68544395-68544396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187709631	chr6:68544415-68544416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574002362	chr6:68544421-68544422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542158211	chr6:68544437-68544438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192775671	chr6:68544450-68544451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182530671	chr6:68544536-68544537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575692829	chr6:68544549-68544550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544408330	chr6:68544556-68544557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564327747	chr6:68544562-68544563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533318649	chr6:68544594-68544595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540448348	chr6:68544656-68544657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79891340	chr6:68544671-68544672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147952909	chr6:68544709-68544710	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68543600-68545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:68543600-68545000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:68543600-68545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:68543600-68545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:68543800-68545000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:68544200-68544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:68544400-68544800	Enhancers	K562	blood
8	chr6:68544400-68545200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:68544600-68545000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:68544600-68545000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:68549200-68549600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:68556600-68559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:68557800-68558200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:68563800-68564200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:68564000-68564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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