Variant report

Variant	nsv528852
Chromosome Location	chr6:38908515-38910375
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	chr6:38909328..38913522-chr6:38913862..38917283,4	K562	blood:
2	chr6:38902804..38905532-chr6:38908040..38910496,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs579786	chr6:38908515-38908516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558817854	chr6:38908538-38908539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369266662	chr6:38908557-38908558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116196609	chr6:38908568-38908569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115253867	chr6:38908589-38908590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180881298	chr6:38908605-38908606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534909854	chr6:38908615-38908616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527326445	chr6:38908619-38908620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184475115	chr6:38908620-38908621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139633210	chr6:38908621-38908622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529827588	chr6:38908627-38908628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12524311	chr6:38908639-38908640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10947764	chr6:38908692-38908693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78203672	chr6:38908707-38908708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532837113	chr6:38908800-38908801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552633383	chr6:38908831-38908832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566041270	chr6:38908887-38908888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74696712	chr6:38908896-38908897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571589806	chr6:38908897-38908898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112179102	chr6:38908898-38908899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190563353	chr6:38908907-38908908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554566470	chr6:38908908-38908909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181962044	chr6:38909010-38909011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187503090	chr6:38909013-38909014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556304585	chr6:38909093-38909094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576207969	chr6:38909094-38909095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148697537	chr6:38909103-38909104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558533346	chr6:38909117-38909118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572389696	chr6:38909120-38909121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557454716	chr6:38909173-38909174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540990042	chr6:38909280-38909281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117329224	chr6:38909297-38909298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116373161	chr6:38909313-38909314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543198608	chr6:38909341-38909342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556642722	chr6:38909356-38909357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577950621	chr6:38909376-38909377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142060979	chr6:38909491-38909492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577316702	chr6:38909542-38909543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11967549	chr6:38909554-38909555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190312255	chr6:38909568-38909569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545831356	chr6:38909574-38909575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146678050	chr6:38909581-38909582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528776737	chr6:38909632-38909633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377010756	chr6:38909702-38909703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74350087	chr6:38909709-38909710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9394556	chr6:38909712-38909713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550838648	chr6:38909749-38909750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542492517	chr6:38909813-38909814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370844193	chr6:38909819-38909820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570936138	chr6:38909845-38909846	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Oral squamous cell carcinoma	17134496	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38906800-38909800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:38909600-38909800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:38909800-38910000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr6:38910000-38910800	Enhancers	Liver	Liver
5	chr6:38910200-38910600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:38910200-38910800	Enhancers	Gastric	stomach

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