Variant report

Variant	nsv818468
Chromosome Location	chr6:165877431-165893347
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	chr6:165885688..165888087-chr6:165891217..165893154,3	K562	blood:
2	chr6:165885688..165888087-chr6:165891217..165893154,3	K562	blood:

Extended variants
information (count: 670 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs221739	chr6:165877431-165877432	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561641539	chr6:165877434-165877435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531867233	chr6:165877458-165877459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554310505	chr6:165877506-165877507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373412249	chr6:165877537-165877538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548130773	chr6:165877593-165877594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572102093	chr6:165877609-165877610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138235930	chr6:165877626-165877627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534324205	chr6:165877650-165877651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532901935	chr6:165877654-165877655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187973558	chr6:165877662-165877663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs221738	chr6:165877671-165877672	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115220703	chr6:165877693-165877694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375679058	chr6:165877712-165877713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs180867260	chr6:165877719-165877720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149595106	chr6:165877724-165877725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570831106	chr6:165877735-165877736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143214928	chr6:165877737-165877738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537855038	chr6:165877756-165877757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139049198	chr6:165877757-165877758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs578058384	chr6:165877758-165877759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539162269	chr6:165877786-165877787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs59698636	chr6:165877805-165877806	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187041810	chr6:165877812-165877813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192374540	chr6:165877844-165877845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543213302	chr6:165877872-165877873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561275578	chr6:165877908-165877909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576717779	chr6:165877934-165877935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543746475	chr6:165878069-165878070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575073675	chr6:165878100-165878101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7738620	chr6:165878113-165878114	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183329053	chr6:165878140-165878141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7738768	chr6:165878165-165878166	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145226238	chr6:165878166-165878167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559827123	chr6:165878208-165878209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201324907	chr6:165878217-165878218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs527349924	chr6:165878228-165878229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549206988	chr6:165878238-165878239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572319506	chr6:165878247-165878248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7743001	chr6:165878257-165878258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538175905	chr6:165878330-165878331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549784780	chr6:165878336-165878337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190207354	chr6:165878363-165878364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182835324	chr6:165878411-165878412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371887715	chr6:165878428-165878429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539049959	chr6:165878506-165878507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554166910	chr6:165878546-165878547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562516554	chr6:165878554-165878555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187182972	chr6:165878578-165878579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141374600	chr6:165878579-165878580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165854800-165881800	Weak transcription	Hela-S3	cervix
2	chr6:165857400-165886200	Weak transcription	Left Ventricle	heart
3	chr6:165857400-165919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:165863200-165882000	Weak transcription	HSMM	muscle
5	chr6:165874800-165883000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:165877800-165896000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:165881400-165895400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:165881800-165882000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:165881800-165883400	Enhancers	Hela-S3	cervix
10	chr6:165882000-165882400	Genic enhancers	HSMM	muscle
11	chr6:165882000-165883000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:165882000-165883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:165882200-165882600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:165882400-165899400	Weak transcription	HSMM	muscle
15	chr6:165883000-165883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:165883000-165902200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:165883400-165883800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:165883400-165910400	Weak transcription	Hela-S3	cervix
19	chr6:165883600-165883800	Active TSS	Spleen	Spleen
20	chr6:165883800-165885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:165883800-165890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:165885000-165885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:165885000-165885200	Enhancers	Gastric	stomach
24	chr6:165885200-165890200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:165885200-165901000	Weak transcription	Gastric	stomach
26	chr6:165886000-165886400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:165886000-165886800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:165886400-165891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:165890800-165891600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:165891200-165895400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:165891600-165892600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:165891600-165892800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:165891600-165894600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:165891800-165892000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:165891800-165892000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:165891800-165892800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:165891800-165892800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:165891800-165902000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:165892000-165892200	Enhancers	HSMMtube	muscle
40	chr6:165892000-165892800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:165892000-165897800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:165892200-165892600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:165892200-165902000	Weak transcription	HSMMtube	muscle
44	chr6:165892600-165892800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:165892600-165892800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:165892800-165897600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:165892800-165897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:165892800-165897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:165892800-165897800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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