Variant report

Variant	nsv969408
Chromosome Location	chr6:58142820-58168339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 340 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181820903	chr6:58142880-58142881	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200907270	chr6:58142893-58142894	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186364386	chr6:58142904-58142905	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560558988	chr6:58142942-58142943	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559549966	chr6:58142946-58142947	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191709398	chr6:58142954-58142955	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549384221	chr6:58142956-58142957	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567975509	chr6:58142969-58142970	Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183484037	chr6:58143039-58143040	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4392744	chr6:58143063-58143064	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs188064086	chr6:58143068-58143069	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114623936	chr6:58143075-58143076	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539168419	chr6:58143127-58143128	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557911931	chr6:58143128-58143129	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191162032	chr6:58143140-58143141	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151330320	chr6:58143141-58143142	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377256635	chr6:58143177-58143178	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534004632	chr6:58143186-58143187	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555329384	chr6:58143208-58143209	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573599510	chr6:58143211-58143212	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115280843	chr6:58143228-58143229	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555782878	chr6:58143321-58143322	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577305664	chr6:58143344-58143345	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544807481	chr6:58143369-58143370	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12208031	chr6:58143371-58143372	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527847211	chr6:58143423-58143424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543215593	chr6:58143431-58143432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561519945	chr6:58143454-58143455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532092881	chr6:58143512-58143513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561803862	chr6:58143563-58143564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550181543	chr6:58143608-58143609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78845848	chr6:58143623-58143624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377390178	chr6:58143634-58143635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571694632	chr6:58143663-58143664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182811298	chr6:58143668-58143669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547540359	chr6:58143679-58143680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566172443	chr6:58143693-58143694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533700928	chr6:58143706-58143707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186172664	chr6:58143730-58143731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555581356	chr6:58143749-58143750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373474792	chr6:58143753-58143754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75214243	chr6:58143759-58143760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367921027	chr6:58143824-58143825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368577150	chr6:58143855-58143856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201131200	chr6:58143896-58143897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186729188	chr6:58143898-58143899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191532159	chr6:58143919-58143920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577193668	chr6:58143931-58143932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376496097	chr6:58143977-58143978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545005803	chr6:58143994-58143995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58141400-58143200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:58141400-58143400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:58141600-58143000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:58141600-58143000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:58141600-58143000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:58141600-58143000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:58141600-58143000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:58141600-58143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:58141600-58143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:58141800-58143000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:58142200-58144800	Weak transcription	Right Atrium	heart
12	chr6:58142800-58143200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:58143000-58143200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:58145000-58145200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
15	chr6:58146000-58147000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:58146200-58149800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:58146400-58147000	Bivalent Enhancer	HepG2	liver
21	chr6:58146600-58146800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:58146600-58146800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:58146600-58147000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:58146600-58147400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:58146600-58147600	Bivalent/Poised TSS	HUVEC	blood vessel
26	chr6:58146600-58148000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:58146600-58149200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:58146600-58149600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr6:58146600-58149600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr6:58146600-58149800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:58146600-58149800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:58146600-58149800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:58146600-58149800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:58146800-58147000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr6:58146800-58148200	Bivalent Enhancer	Liver	Liver
36	chr6:58146800-58149000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:58146800-58149600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:58146800-58149600	Bivalent/Poised TSS	NHDF-Ad	bronchial
39	chr6:58146800-58149600	Bivalent/Poised TSS	Osteobl	bone
40	chr6:58147000-58147200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr6:58147000-58147200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr6:58147000-58147200	Bivalent/Poised TSS	HMEC	breast
43	chr6:58147000-58147400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:58147000-58147400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr6:58147000-58147400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:58147000-58147400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:58147000-58147600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:58147000-58147600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:58147000-58147600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr6:58147000-58148000	Flanking Bivalent TSS/Enh	HepG2	liver

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