Variant report

Variant	nsv481700
Chromosome Location	chr6:162362330-162459779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
2	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
3	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
4	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
5	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
6	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
7	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
8	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
9	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:

No data

Extended variants
information (count: 3088 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3088 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528357199	chr6:162362330-162362331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538379017	chr6:162362337-162362338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551307550	chr6:162362356-162362357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368750476	chr6:162362367-162362368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570463994	chr6:162362400-162362401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375645051	chr6:162362420-162362421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376938766	chr6:162362471-162362472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549980962	chr6:162362548-162362549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186414714	chr6:162362549-162362550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7741587	chr6:162362558-162362559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544412769	chr6:162362566-162362567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555919425	chr6:162362585-162362586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190817396	chr6:162362664-162362665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147156892	chr6:162362671-162362672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556474036	chr6:162362707-162362708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558496901	chr6:162362756-162362757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139263988	chr6:162362775-162362776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543427066	chr6:162362776-162362777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7768959	chr6:162362871-162362872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573661950	chr6:162362890-162362891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141496337	chr6:162362907-162362908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74578583	chr6:162362912-162362913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150906883	chr6:162362913-162362914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183941389	chr6:162362953-162362954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544871954	chr6:162363085-162363086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564859835	chr6:162363092-162363093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554462388	chr6:162363126-162363127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79641893	chr6:162363174-162363175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550135925	chr6:162363292-162363293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569993275	chr6:162363300-162363301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368177446	chr6:162363356-162363357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6936208	chr6:162363374-162363375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373703114	chr6:162363401-162363402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529386580	chr6:162363435-162363436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187651928	chr6:162363477-162363478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370431222	chr6:162363478-162363479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566237884	chr6:162363495-162363496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535246823	chr6:162363500-162363501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192561858	chr6:162363505-162363506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138573813	chr6:162363511-162363512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146072476	chr6:162363519-162363520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373758837	chr6:162363520-162363521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140006848	chr6:162363563-162363564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573599845	chr6:162363579-162363580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112737098	chr6:162363609-162363610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376810689	chr6:162363615-162363616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12214712	chr6:162363633-162363634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552657319	chr6:162363636-162363637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572675286	chr6:162363666-162363667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146803319	chr6:162363681-162363682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162354200-162372200	Weak transcription	Right Atrium	heart
2	chr6:162361800-162362400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162361800-162362400	Enhancers	Pancreas	Pancrea
4	chr6:162362200-162362800	Enhancers	Fetal Intestine Large	intestine
5	chr6:162364600-162364800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:162364600-162364800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:162364800-162365400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:162364800-162365600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:162364800-162366200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:162364800-162377000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:162365400-162365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:162365400-162365600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:162365400-162365800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:162365400-162366600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:162365400-162366800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:162365400-162368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:162365600-162366600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:162365600-162367600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:162365600-162367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:162365800-162366000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:162365800-162366200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:162365800-162367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:162365800-162367200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:162366000-162370000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:162366200-162366400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:162366200-162368400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:162366400-162368800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:162366600-162366800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:162366600-162367600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:162366800-162367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:162366800-162367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:162367000-162367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:162367200-162368200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:162367400-162367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162367400-162368000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:162367400-162368000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:162367400-162368000	Enhancers	Fetal Brain Male	brain
38	chr6:162367600-162367800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:162367600-162367800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:162367600-162368600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:162367800-162368400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:162367800-162368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:162367800-162368800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:162368000-162377200	Weak transcription	Fetal Brain Male	brain
45	chr6:162368200-162368600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:162368400-162368600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:162368400-162368600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:162368600-162371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:162368800-162369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:162368800-162371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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