Variant report

Variant	nsv970299
Chromosome Location	chr6:45997282-46003233
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	chr6:46002982..46005578-chr6:46009037..46013212,3	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553758918	chr6:45998827-45998828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572053580	chr6:45998842-45998843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545582179	chr6:45998848-45998849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560385020	chr6:45998854-45998855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557539329	chr6:45998923-45998924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575685232	chr6:45998941-45998942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543174025	chr6:45998957-45998958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189592058	chr6:45998972-45998973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568152149	chr6:45998979-45998980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528868918	chr6:45998982-45998983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76673643	chr6:45999037-45999038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559793650	chr6:45999040-45999041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533709045	chr6:45999051-45999052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71566557	chr6:45999064-45999065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148188734	chr6:45999067-45999068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558437277	chr6:45999161-45999162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192860907	chr6:45999167-45999168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17364825	chr6:45999204-45999205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185236791	chr6:45999267-45999268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369798765	chr6:45999282-45999283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549226954	chr6:45999286-45999287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576461254	chr6:45999349-45999350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539058684	chr6:45999350-45999351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189074940	chr6:45999353-45999354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549486671	chr6:45999395-45999396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567695924	chr6:45999414-45999415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11759130	chr6:45999490-45999491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11756973	chr6:45999493-45999494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181465407	chr6:45999509-45999510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553370066	chr6:45999525-45999526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573487165	chr6:45999569-45999570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143366488	chr6:45999592-45999593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574859089	chr6:45999601-45999602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201796576	chr6:45999602-45999603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542118567	chr6:45999615-45999616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186446176	chr6:45999624-45999625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12199824	chr6:45999630-45999631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71791982	chr6:45999631-45999632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557500693	chr6:45999632-45999633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59497107	chr6:45999640-45999641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547139194	chr6:45999662-45999663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575907098	chr6:45999663-45999664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140743439	chr6:45999674-45999675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35929799	chr6:45999676-45999677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61177963	chr6:45999677-45999678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61494107	chr6:45999678-45999679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71966819	chr6:45999694-45999695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397786578	chr6:45999695-45999696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373032004	chr6:45999722-45999723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111689545	chr6:45999734-45999735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45998800-46012600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:46000000-46000400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:46000000-46000400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:46000000-46000400	Enhancers	Placenta	Placenta
5	chr6:46000000-46000600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr6:46000000-46000600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:46000000-46000600	Enhancers	HMEC	breast
8	chr6:46000000-46001000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:46000000-46001200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:46000200-46000600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:46000200-46000600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:46000200-46000600	Enhancers	NHEK	skin
13	chr6:46000200-46000800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:46000200-46001400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:46000200-46001800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:46000400-46000600	Enhancers	Hela-S3	cervix
17	chr6:46000600-46001600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:46000600-46002600	Weak transcription	Hela-S3	cervix
19	chr6:46000800-46001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:46001200-46002200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:46001600-46001800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:46002400-46002600	Enhancers	Left Ventricle	heart
23	chr6:46002400-46002600	Enhancers	Right Ventricle	heart
24	chr6:46002400-46003400	Enhancers	HUVEC	blood vessel
25	chr6:46002600-46003400	Enhancers	Hela-S3	cervix
26	chr6:46002600-46008000	Weak transcription	Left Ventricle	heart
27	chr6:46002600-46011400	Weak transcription	Right Ventricle	heart

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