Variant report

Variant	nsv604791
Chromosome Location	chr6:142174962-142214093
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
2	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
3	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
4	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
5	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
6	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
7	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-7	chr6:142199849-142200254	NONHSAT115300
2	lnc-GJE1-7	chr6:142198752-142199114	NONHSAT115300

No data

Extended variants
information (count: 605 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530972311	chr6:142187835-142187836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556441535	chr6:142187838-142187839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76442428	chr6:142187841-142187842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74945490	chr6:142187849-142187850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79651233	chr6:142187853-142187854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62431972	chr6:142187857-142187858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12525332	chr6:142187861-142187862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149833956	chr6:142187862-142187863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12209488	chr6:142187865-142187866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200781724	chr6:142187869-142187870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71021642	chr6:142187873-142187874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398002956	chr6:142187885-142187886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574498338	chr6:142187891-142187892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs67861798	chr6:142187900-142187901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547011526	chr6:142187984-142187985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568348257	chr6:142187997-142187998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183841773	chr6:142188009-142188010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574133364	chr6:142188019-142188020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534496370	chr6:142188035-142188036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138037459	chr6:142188075-142188076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188861624	chr6:142188083-142188084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141072840	chr6:142188098-142188099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11155209	chr6:142188100-142188101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540755838	chr6:142188125-142188126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574850316	chr6:142188134-142188135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111928365	chr6:142188184-142188185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35605825	chr6:142188185-142188186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559331255	chr6:142188189-142188190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372053708	chr6:142188191-142188192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192350787	chr6:142188238-142188239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182089815	chr6:142188263-142188264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115924094	chr6:142188275-142188276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375527899	chr6:142188346-142188347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531010677	chr6:142188370-142188371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114225219	chr6:142188377-142188378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77868709	chr6:142188378-142188379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187085952	chr6:142188381-142188382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35480036	chr6:142188405-142188406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11155211	chr6:142188406-142188407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191588944	chr6:142188543-142188544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548508288	chr6:142188566-142188567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570012873	chr6:142188574-142188575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370859686	chr6:142188590-142188591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144923934	chr6:142188648-142188649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558753188	chr6:142188665-142188666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576942707	chr6:142188670-142188671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184455493	chr6:142188677-142188678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189976871	chr6:142188682-142188683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560072288	chr6:142188695-142188696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79730889	chr6:142188699-142188700	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	21448237	CNVD
Autism	22495311	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
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142187800-142188600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:142187800-142188600	Enhancers	HepG2	liver
3	chr6:142187800-142189200	Enhancers	Liver	Liver
4	chr6:142188000-142189600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:142188200-142188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:142189000-142189600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:142195400-142196200	Enhancers	Adipose Nuclei	Adipose
8	chr6:142195600-142195800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:142195600-142196000	Enhancers	Liver	Liver
10	chr6:142195800-142196000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:142195800-142196600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:142195800-142196800	Enhancers	Dnd41	blood
13	chr6:142196000-142196400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:142196000-142196600	Flanking Active TSS	Liver	Liver
15	chr6:142196200-142196600	Active TSS	Adipose Nuclei	Adipose
16	chr6:142196200-142196800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:142196400-142196600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:142196600-142196800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:142196600-142197600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:142196600-142198800	Enhancers	Liver	Liver
21	chr6:142196800-142199000	Enhancers	Adipose Nuclei	Adipose
22	chr6:142197600-142198600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:142198200-142199200	Enhancers	HepG2	liver
24	chr6:142198600-142200200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:142198800-142200200	Flanking Active TSS	Liver	Liver
26	chr6:142200200-142200600	Enhancers	Liver	Liver
27	chr6:142205600-142206400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:142206400-142207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:142207400-142208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:142207600-142207800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:142207800-142211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:142208400-142209000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:142208600-142209000	ZNF genes & repeats	Liver	Liver
34	chr6:142208800-142209000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:142208800-142209000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:142209000-142211400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:142209000-142212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:142209000-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:142211400-142212200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:142211400-142212400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:142211600-142212200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:142211800-142212200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr6:142212000-142212200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:142212000-142212200	ZNF genes & repeats	Gastric	stomach

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