Variant report

Variant	nsv970078
Chromosome Location	chr6:15846040-15849636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15843460..15845659-chr6:15846295..15848872,3	K562	blood:
2	chr6:15849502..15852493-chr6:15865904..15869500,3	K562	blood:
3	chr6:15849343..15852603-chr6:16131600..16134904,3	K562	blood:
4	chr6:15847371..15849315-chr6:15851002..15853274,2	K562	blood:
5	chr6:15847033..15849946-chr6:16004601..16006275,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533260640	chr6:15846079-15846080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59217115	chr6:15846126-15846127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576828283	chr6:15846127-15846128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539347089	chr6:15846130-15846131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143412033	chr6:15846138-15846139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566907462	chr6:15846144-15846145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527900244	chr6:15846163-15846164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116574264	chr6:15846235-15846236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371105517	chr6:15846333-15846334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554249218	chr6:15846377-15846378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56024112	chr6:15846412-15846413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574155852	chr6:15846429-15846430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549664210	chr6:15846436-15846437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147127657	chr6:15846463-15846464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562916966	chr6:15846493-15846494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567981791	chr6:15846510-15846511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185127894	chr6:15846536-15846537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs220934	chr6:15846701-15846702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs114091729	chr6:15846720-15846721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528337086	chr6:15846721-15846722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556669466	chr6:15846782-15846783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568873451	chr6:15846821-15846822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539155224	chr6:15846826-15846827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567773720	chr6:15846899-15846900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190460480	chr6:15846908-15846909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114675195	chr6:15846922-15846923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570066438	chr6:15846930-15846931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181801084	chr6:15846936-15846937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572660827	chr6:15846940-15846941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566196733	chr6:15846949-15846950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149736255	chr6:15846962-15846963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554709351	chr6:15846964-15846965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111263980	chr6:15846984-15846985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543144045	chr6:15847014-15847015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115130424	chr6:15847040-15847041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77622388	chr6:15847047-15847048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60163716	chr6:15847119-15847120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145772075	chr6:15847204-15847205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199865266	chr6:15847205-15847206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200625186	chr6:15847207-15847208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1927588	chr6:15847227-15847228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548029503	chr6:15847231-15847232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117173951	chr6:15847235-15847236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542064800	chr6:15847251-15847252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561889792	chr6:15847274-15847275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146814954	chr6:15847282-15847283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573575345	chr6:15847323-15847324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201672520	chr6:15847396-15847397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550338174	chr6:15847423-15847424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570048444	chr6:15847467-15847468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15843000-15855400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:15843800-15849400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:15844000-15846200	Enhancers	GM12878-XiMat	blood
4	chr6:15844200-15849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:15848200-15848400	Weak transcription	Aorta	Aorta
6	chr6:15849000-15849600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:15849400-15850600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:15849400-15850800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:15849600-15849800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:15849600-15850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:15849600-15850800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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