Variant report

Variant	nsv981057
Chromosome Location	chr6:45117038-45119272
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	chr6:45117043..45119503-chr6:45122120..45124121,2	K562	blood:
2	chr19:27731523..27732363-chr6:45117749..45118249,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180798663	chr6:45117089-45117090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185255222	chr6:45117094-45117095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78421126	chr6:45117133-45117134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114838406	chr6:45117169-45117170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191039376	chr6:45117174-45117175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181124035	chr6:45117333-45117334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571158677	chr6:45117404-45117405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116322581	chr6:45117410-45117411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186615698	chr6:45117448-45117449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72869199	chr6:45117482-45117483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191498173	chr6:45117485-45117486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77752628	chr6:45117490-45117491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573542195	chr6:45117522-45117523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534517985	chr6:45117558-45117559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140772477	chr6:45117573-45117574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563366661	chr6:45117581-45117582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183158016	chr6:45117673-45117674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577175788	chr6:45117682-45117683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544644176	chr6:45117708-45117709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562822464	chr6:45117709-45117710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574629494	chr6:45117713-45117714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542381411	chr6:45117746-45117747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187858782	chr6:45117763-45117764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75428966	chr6:45117764-45117765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570751502	chr6:45117777-45117778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546587689	chr6:45117791-45117792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115587606	chr6:45117801-45117802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150090446	chr6:45117963-45117964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375365559	chr6:45117977-45117978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7745748	chr6:45117982-45117983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568843050	chr6:45118025-45118026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536368296	chr6:45118026-45118027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138602788	chr6:45118103-45118104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78537995	chr6:45118114-45118115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567071124	chr6:45118153-45118154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77536512	chr6:45118168-45118169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116182712	chr6:45118287-45118288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13196943	chr6:45118365-45118366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571154642	chr6:45118412-45118413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58301341	chr6:45118425-45118426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34178398	chr6:45118457-45118458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559405929	chr6:45118458-45118459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150372182	chr6:45118461-45118462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199624009	chr6:45118467-45118468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11319902	chr6:45118477-45118478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56865009	chr6:45118478-45118479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60861677	chr6:45118554-45118555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138532150	chr6:45118604-45118605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566704357	chr6:45118605-45118606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368333049	chr6:45118621-45118622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Cervical cancer	21062161	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45113800-45120800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:45115800-45117200	Enhancers	Osteobl	bone
3	chr6:45115800-45117400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:45117000-45117600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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