Variant report

Variant	nsv600999
Chromosome Location	chr6:14839778-14841092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6939905	chr6:14839778-14839779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541324963	chr6:14839792-14839793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370822641	chr6:14839795-14839796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182640157	chr6:14839882-14839883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9476668	chr6:14839995-14839996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187099210	chr6:14840016-14840017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2031298	chr6:14840050-14840051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192848737	chr6:14840082-14840083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9396535	chr6:14840185-14840186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542662366	chr6:14840250-14840251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183482592	chr6:14840254-14840255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151150048	chr6:14840257-14840258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554728061	chr6:14840268-14840269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577816480	chr6:14840281-14840282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141123925	chr6:14840301-14840302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188639443	chr6:14840408-14840409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576730521	chr6:14840412-14840413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543623197	chr6:14840421-14840422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193139790	chr6:14840427-14840428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371377437	chr6:14840437-14840438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185614309	chr6:14840440-14840441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541197977	chr6:14840461-14840462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188385057	chr6:14840470-14840471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146932423	chr6:14840493-14840494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62390283	chr6:14840507-14840508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34192416	chr6:14840535-14840536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75882538	chr6:14840552-14840553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532868963	chr6:14840597-14840598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529014211	chr6:14840602-14840603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138081100	chr6:14840613-14840614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191511707	chr6:14840655-14840656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62390284	chr6:14840657-14840658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183665908	chr6:14840665-14840666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559395194	chr6:14840725-14840726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568242123	chr6:14840756-14840757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188708790	chr6:14840760-14840761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368841417	chr6:14840772-14840773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11438086	chr6:14840773-14840774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74724848	chr6:14840785-14840786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397796117	chr6:14840786-14840787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181096906	chr6:14840804-14840805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570380340	chr6:14840815-14840816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528035229	chr6:14840838-14840839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539370763	chr6:14840859-14840860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558890233	chr6:14840866-14840867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375354226	chr6:14840873-14840874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186970655	chr6:14840888-14840889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149120157	chr6:14840921-14840922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574991513	chr6:14840922-14840923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373587407	chr6:14840937-14840938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14832200-14855400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:14836600-14840200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:14837000-14839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:14837800-14839800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:14838200-14841800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:14838400-14839800	Enhancers	Fetal Muscle Leg	muscle
7	chr6:14838400-14841800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:14838600-14839800	Weak transcription	Fetal Kidney	kidney
9	chr6:14838600-14842200	Weak transcription	Fetal Stomach	stomach
10	chr6:14838600-14842400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:14838800-14839800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:14839000-14841800	Weak transcription	NHDF-Ad	bronchial
13	chr6:14839200-14842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:14839400-14840600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:14839600-14842000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:14839600-14842200	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:14839600-14842200	Weak transcription	Fetal Lung	lung
18	chr6:14839600-14844800	Weak transcription	Ovary	ovary
19	chr6:14839600-14849400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:14839800-14840000	Enhancers	Fetal Kidney	kidney
21	chr6:14840000-14840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:14840600-14843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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