Variant report

Variant	nsv981047
Chromosome Location	chr6:13000303-13002675
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	chr6:13000472..13003227-chr6:13006605..13008195,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547482143	chr6:13000337-13000338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568931154	chr6:13000346-13000347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377179647	chr6:13000363-13000364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143081538	chr6:13000386-13000387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115219159	chr6:13000398-13000399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534169651	chr6:13000493-13000494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67193572	chr6:13000494-13000495	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144790514	chr6:13000586-13000587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552933698	chr6:13000592-13000593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193161326	chr6:13000609-13000610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28476667	chr6:13000623-13000624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535390468	chr6:13000635-13000636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185414715	chr6:13000739-13000740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546343987	chr6:13000758-13000759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562839726	chr6:13000784-13000785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576516425	chr6:13000826-13000827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373918681	chr6:13000839-13000840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113550993	chr6:13000846-13000847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190722507	chr6:13000856-13000857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376061687	chr6:13000865-13000866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147732283	chr6:13000893-13000894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535862399	chr6:13000920-13000921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148557137	chr6:13000936-13000937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540778150	chr6:13000947-13000948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560521195	chr6:13000973-13000974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370073792	chr6:13000993-13000994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529561608	chr6:13001010-13001011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549281364	chr6:13001072-13001073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535691325	chr6:13001103-13001104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7341250	chr6:13001274-13001275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531575902	chr6:13001332-13001333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551409675	chr6:13001366-13001367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571705766	chr6:13001448-13001449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534044664	chr6:13001450-13001451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546729152	chr6:13001496-13001497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566573838	chr6:13001528-13001529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535715982	chr6:13001537-13001538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58091519	chr6:13001677-13001678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192233492	chr6:13001678-13001679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111387468	chr6:13001750-13001751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557791906	chr6:13001770-13001771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577629106	chr6:13001804-13001805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112930877	chr6:13001845-13001846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139829604	chr6:13001868-13001869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34054869	chr6:13001874-13001875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547309363	chr6:13001876-13001877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542847930	chr6:13001892-13001893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111555940	chr6:13001921-13001922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372153517	chr6:13002057-13002058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9473198	chr6:13002071-13002072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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	22495311	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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
4	chr6:12993800-13002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:12995600-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:12997400-13011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:12998400-13000600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:13000200-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:13000400-13004600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:13000600-13002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:13001600-13002400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:13001600-13003200	Enhancers	Fetal Heart	heart
13	chr6:13001800-13002400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:13001800-13002600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:13001800-13003200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:13002000-13002400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:13002000-13002400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:13002000-13003000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:13002200-13003000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:13002400-13003200	Enhancers	Fetal Brain Female	brain
21	chr6:13002400-13003400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:13002600-13006400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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