Variant report

Variant	nsv519073
Chromosome Location	chr6:31218889-31221039
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	chr6:31187490..31190169-chr6:31217260..31219687,2	K562	blood:
2	chr6:31209841..31212396-chr6:31219604..31221505,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139626013	chr6:31219004-31219005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117523633	chr6:31219021-31219022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116753905	chr6:31219045-31219046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578083088	chr6:31219069-31219070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72502552	chr6:31219076-31219077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3130428	chr6:31219090-31219091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs527870593	chr6:31219109-31219110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117695613	chr6:31219117-31219118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116016810	chr6:31219125-31219126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58783670	chr6:31219126-31219127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3130429	chr6:31219133-31219134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs116974494	chr6:31219134-31219135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568476912	chr6:31219136-31219137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55891410	chr6:31219142-31219143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111710795	chr6:31219173-31219174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3130430	chr6:31219180-31219181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs112056944	chr6:31219206-31219207	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs117552201	chr6:31219257-31219258	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs373498741	chr6:31219288-31219289	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs11962994	chr6:31219289-31219290	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs547974475	chr6:31219326-31219327	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs550505460	chr6:31219329-31219330	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs3130431	chr6:31219342-31219343	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs147705842	chr6:31219345-31219346	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs3130432	chr6:31219357-31219358	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs201237065	chr6:31219435-31219436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373621534	chr6:31219451-31219452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3134749	chr6:31219469-31219470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs184308159	chr6:31219483-31219484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572493314	chr6:31219488-31219489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188792600	chr6:31219494-31219495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117131177	chr6:31219504-31219505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181201309	chr6:31219514-31219515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547867659	chr6:31219516-31219517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144833861	chr6:31219534-31219535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116751182	chr6:31219549-31219550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566591221	chr6:31219557-31219558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151288588	chr6:31219576-31219577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551139155	chr6:31219577-31219578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183869194	chr6:31219595-31219596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73728460	chr6:31219613-31219614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116955664	chr6:31219627-31219628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79433986	chr6:31219635-31219636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3130433	chr6:31219638-31219639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs116227766	chr6:31219650-31219651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550085591	chr6:31219655-31219656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140626810	chr6:31219672-31219673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564216916	chr6:31219673-31219674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535896832	chr6:31219681-31219682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62399832	chr6:31219699-31219700	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
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
Ovarian cancer	21781307	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31219000-31219800	Enhancers	Fetal Lung	lung
2	chr6:31219200-31219400	Bivalent Enhancer	HUVEC	blood vessel
3	chr6:31219200-31219600	Enhancers	Duodenum Mucosa	Duodenum
4	chr6:31220200-31220600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:31220200-31220600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:31220200-31220800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:31220400-31220800	Enhancers	HUES64 Cell Line	embryonic stem cell

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