Variant report

Variant	nsv520166
Chromosome Location	chr6:6255851-6256833
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	chr6:6249809..6251527-chr6:6255458..6257833,2	K562	blood:
2	chr6:6255207..6256836-chr6:6260171..6262500,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9379022	chr6:6255851-6255852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17141939	chr6:6255862-6255863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548021892	chr6:6255886-6255887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115178163	chr6:6255931-6255932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184003378	chr6:6255948-6255949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187331416	chr6:6255999-6256000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572133130	chr6:6256018-6256019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191850283	chr6:6256045-6256046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541245650	chr6:6256075-6256076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553391787	chr6:6256079-6256080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374069618	chr6:6256105-6256106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576698498	chr6:6256165-6256166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369685578	chr6:6256173-6256174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142150416	chr6:6256187-6256188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183590154	chr6:6256219-6256220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557636537	chr6:6256267-6256268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186847093	chr6:6256290-6256291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191686799	chr6:6256323-6256324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578020941	chr6:6256383-6256384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564960876	chr6:6256384-6256385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576786093	chr6:6256419-6256420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540976061	chr6:6256453-6256454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559396936	chr6:6256459-6256460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529983520	chr6:6256493-6256494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182105899	chr6:6256507-6256508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563176498	chr6:6256553-6256554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562940557	chr6:6256556-6256557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146323537	chr6:6256558-6256559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34967738	chr6:6256589-6256590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186703818	chr6:6256591-6256592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570874963	chr6:6256592-6256593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370067929	chr6:6256609-6256610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528483654	chr6:6256630-6256631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547015791	chr6:6256633-6256634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576354294	chr6:6256737-6256738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568362242	chr6:6256749-6256750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536185456	chr6:6256753-6256754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542160092	chr6:6256797-6256798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7766109	chr6:6256833-6256834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:101)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:6250400-6262600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:6250800-6258400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr6:6253200-6256600	Weak transcription	HSMMtube	muscle
4	chr6:6253800-6256400	Weak transcription	HSMM	muscle
5	chr6:6255400-6257800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:6255600-6257800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:6255800-6256600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:6255800-6260400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:6256000-6257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:6256200-6257800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:6256400-6256600	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:6256400-6257200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:6256400-6257600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:6256400-6257800	Enhancers	HSMM	muscle
15	chr6:6256400-6258000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:6256400-6258000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:6256400-6258400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:6256600-6257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:6256600-6258000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:6256600-6258000	Enhancers	HSMMtube	muscle
21	chr6:6256600-6258600	Weak transcription	Duodenum Mucosa	Duodenum

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