Variant report

Variant	nsv604568
Chromosome Location	chr6:120581725-120669986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
3	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
4	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf170-5	chr6:120665876-120666017	FPKM1_group_28318_transcript_1

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 897 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9372587	chr6:120581725-120581726	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527597285	chr6:120581755-120581756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192002111	chr6:120581760-120581761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567271651	chr6:120581764-120581765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185081377	chr6:120581768-120581769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549945102	chr6:120581788-120581789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577943706	chr6:120581797-120581798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139114752	chr6:120581799-120581800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539266919	chr6:120581870-120581871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559128937	chr6:120581920-120581921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572908607	chr6:120581950-120581951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144003035	chr6:120581984-120581985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535337277	chr6:120581991-120581992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs386705246	chr6:120582046-120582047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181012762	chr6:120582047-120582048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543493650	chr6:120582146-120582147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557060553	chr6:120582156-120582157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576946034	chr6:120582198-120582199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528642147	chr6:120582264-120582265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116406196	chr6:120582282-120582283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370713063	chr6:120582320-120582321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116966208	chr6:120582364-120582365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184262806	chr6:120582459-120582460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144938226	chr6:120582512-120582513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377118926	chr6:120582545-120582546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560860603	chr6:120582567-120582568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560154513	chr6:120582574-120582575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1904233	chr6:120582605-120582606	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189320182	chr6:120582618-120582619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181212049	chr6:120582631-120582632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9374874	chr6:120582641-120582642	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548395183	chr6:120583403-120583404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs151302706	chr6:120583408-120583409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537356059	chr6:120583425-120583426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs550511909	chr6:120583436-120583437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139441270	chr6:120583444-120583445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570868947	chr6:120583453-120583454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539540589	chr6:120583460-120583461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79608929	chr6:120583498-120583499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553468233	chr6:120583500-120583501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62425208	chr6:120583501-120583502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs62425209	chr6:120583509-120583510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200378569	chr6:120583521-120583522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190655409	chr6:120583574-120583575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540765381	chr6:120594405-120594406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535554716	chr6:120594422-120594423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145062990	chr6:120594529-120594530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181008866	chr6:120594549-120594550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184528454	chr6:120594554-120594555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78323925	chr6:120594557-120594558	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120583400-120583600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:120594400-120596000	Enhancers	Fetal Lung	lung
3	chr6:120595200-120596400	Enhancers	Primary B cells from cord blood	blood
4	chr6:120595200-120596400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:120596000-120599200	Weak transcription	Fetal Lung	lung
6	chr6:120598000-120598400	Enhancers	Fetal Brain Female	brain
7	chr6:120598200-120600400	Enhancers	Fetal Brain Male	brain
8	chr6:120598400-120600000	Weak transcription	Fetal Brain Female	brain
9	chr6:120599000-120599200	Enhancers	Fetal Heart	heart
10	chr6:120599200-120600000	Enhancers	Fetal Lung	lung
11	chr6:120599200-120600200	Weak transcription	Fetal Heart	heart
12	chr6:120599600-120600000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:120599800-120600200	Enhancers	Fetal Muscle Leg	muscle
14	chr6:120599800-120600400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:120600000-120600400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:120600000-120600800	Weak transcription	Fetal Lung	lung
17	chr6:120600000-120601400	Enhancers	Fetal Brain Female	brain
18	chr6:120600200-120600600	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:120600200-120601400	Enhancers	Fetal Heart	heart
20	chr6:120600400-120600800	Weak transcription	Fetal Brain Male	brain
21	chr6:120600600-120601200	Enhancers	Fetal Muscle Leg	muscle
22	chr6:120600800-120601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:120600800-120601200	Enhancers	Fetal Lung	lung
24	chr6:120600800-120601400	Enhancers	Fetal Brain Male	brain
25	chr6:120617600-120619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:120617800-120618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:120618000-120618200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:120618000-120619000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:120618200-120618600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:120618200-120618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:120618400-120619200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:120618400-120619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:120618600-120619000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:120628200-120628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:120628200-120628600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:120651800-120652200	Enhancers	HepG2	liver
39	chr6:120664800-120666600	Enhancers	Fetal Heart	heart
40	chr6:120668000-120668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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