Variant report

Variant	nsv886743
Chromosome Location	chr6:145433861-145528057
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:4)
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	chr21:22732799..22733441-chr6:145481975..145482791,2	MCF-7	breast:
2	chr6:144906202..144908261-chr6:145458578..145460342,2	MCF-7	breast:
3	chr6:145458549..145459292-chr6:145535350..145535961,2	MCF-7	breast:
4	chr1:81845719..81846637-chr6:145435298..145436075,2	MCF-7	breast:
5	chr6:145430494..145433220-chr6:145468971..145470857,2	MCF-7	breast:
6	chr6:145215634..145217242-chr6:145456840..145459220,2	MCF-7	breast:
7	chr6:145353179..145355811-chr6:145521442..145523143,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UTRN-2	chr6:145475559-145475587	NONHSAT115389
2	lnc-UTRN-2	chr6:145469831-145470278	NONHSAT115389
3	lnc-UTRN-2	chr6:145469832-145470278	XLOC_005493
4	lnc-UTRN-2	chr6:145475560-145475587	XLOC_005493

No data

Variant related genes	Relation type
FADS2	miRNA target sites
HEATR7A	miRNA target sites

Extended variants
information (count: 1926 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1926 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9403663	chr6:145433861-145433862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535789733	chr6:145433898-145433899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556718905	chr6:145433915-145433916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568749366	chr6:145433929-145433930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112891771	chr6:145433947-145433948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75826898	chr6:145433957-145433958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572898363	chr6:145433958-145433959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185420629	chr6:145433992-145433993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555383378	chr6:145433995-145433996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572999010	chr6:145434000-145434001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542537396	chr6:145434017-145434018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4613841	chr6:145434053-145434054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563855971	chr6:145434071-145434072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142526318	chr6:145434114-145434115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546439659	chr6:145434121-145434122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150504676	chr6:145434132-145434133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528593642	chr6:145434183-145434184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139536600	chr6:145434193-145434194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75271570	chr6:145434223-145434224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529162705	chr6:145434272-145434273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550429637	chr6:145434273-145434274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568833533	chr6:145434309-145434310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75674294	chr6:145434312-145434313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557542626	chr6:145434314-145434315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143264486	chr6:145434327-145434328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533934020	chr6:145434342-145434343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555040928	chr6:145434349-145434350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11754554	chr6:145434375-145434376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544242414	chr6:145434398-145434399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201722835	chr6:145434411-145434412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188235706	chr6:145434461-145434462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572490	chr6:145434471-145434472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12200054	chr6:145434472-145434473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564740835	chr6:145434480-145434481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528557904	chr6:145434481-145434482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141354424	chr6:145434500-145434501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143764179	chr6:145434554-145434555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371219359	chr6:145434574-145434575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550565085	chr6:145434581-145434582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562403021	chr6:145434653-145434654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533099703	chr6:145434678-145434679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149001421	chr6:145434700-145434701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77658010	chr6:145434708-145434709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533633230	chr6:145434736-145434737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11970186	chr6:145434745-145434746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567270966	chr6:145434766-145434767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537793420	chr6:145434772-145434773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556204332	chr6:145434801-145434802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528163000	chr6:145434841-145434842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575997744	chr6:145434846-145434847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145430600-145434400	Enhancers	HMEC	breast
2	chr6:145430800-145434400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:145433400-145437400	Weak transcription	NHEK	skin
4	chr6:145433600-145434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:145433800-145435600	Weak transcription	Liver	Liver
6	chr6:145434400-145435800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:145434400-145437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:145434400-145437400	Weak transcription	HMEC	breast
9	chr6:145434800-145435000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:145435600-145438000	Enhancers	Liver	Liver
11	chr6:145435800-145438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:145436000-145436800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:145437400-145438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:145437400-145438200	Enhancers	HMEC	breast
15	chr6:145437400-145438200	Enhancers	NHEK	skin
16	chr6:145437600-145438000	Enhancers	Fetal Heart	heart
17	chr6:145438000-145438200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:145453200-145459200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:145456600-145456800	Enhancers	HepG2	liver
20	chr6:145456800-145457000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:145456800-145457600	Flanking Active TSS	HepG2	liver
22	chr6:145457000-145457200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:145457000-145460600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:145457200-145459800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:145457400-145458000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:145458000-145459200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:145458200-145460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:145458800-145459200	Enhancers	Liver	Liver
29	chr6:145459200-145459400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:145459200-145460200	Weak transcription	Liver	Liver
31	chr6:145459200-145461400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:145459400-145459800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:145459800-145461400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:145459800-145461600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:145460000-145460400	Enhancers	Brain Germinal Matrix	brain
36	chr6:145460000-145460600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:145460000-145460800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:145460000-145460800	Enhancers	Fetal Brain Male	brain
39	chr6:145460000-145461000	Enhancers	Fetal Intestine Large	intestine
40	chr6:145460000-145461000	Enhancers	Fetal Intestine Small	intestine
41	chr6:145460000-145461200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:145460000-145461200	Enhancers	NHDF-Ad	bronchial
43	chr6:145460000-145461400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:145460000-145461400	Enhancers	Adipose Nuclei	Adipose
45	chr6:145460200-145460800	Enhancers	Fetal Brain Female	brain
46	chr6:145460200-145461000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:145460200-145461000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:145460200-145461200	Enhancers	Liver	Liver
49	chr6:145460400-145461000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:145460400-145461400	Weak transcription	Brain Germinal Matrix	brain

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