Variant report

Variant	nsv886737
Chromosome Location	chr6:144010570-144033992
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144019071..144021984-chr6:144030527..144032678,2	MCF-7	breast:
2	chr6:144020099..144020600-chr6:144334156..144334754,2	K562	blood:
3	chr6:144019071..144021984-chr6:144030527..144032678,2	MCF-7	breast:
4	chr6:144011387..144013559-chr6:144018568..144021455,2	MCF-7	breast:
5	chr6:143997575..144000803-chr6:144010017..144014247,5	MCF-7	breast:
6	chr1:117671085..117671842-chr6:144013576..144014109,2	MCF-7	breast:
7	chr6:144009959..144011502-chr6:144013449..144016270,2	K562	blood:
8	chr6:144004544..144009046-chr6:144017005..144020189,4	K562	blood:
9	chr6:144002192..144005187-chr6:144008261..144010591,3	MCF-7	breast:
10	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
11	chr6:143993920..143996702-chr6:144021547..144023983,2	MCF-7	breast:
12	chr6:143996710..144001910-chr6:144005817..144014875,10	MCF-7	breast:
13	chr6:144011351..144015622-chr6:144016784..144019989,3	K562	blood:
14	chr6:144018054..144020954-chr6:144022528..144024554,3	MCF-7	breast:
15	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
16	chr6:144027649..144029895-chr6:144030018..144031552,2	MCF-7	breast:
17	chr6:144025959..144030073-chr6:144031546..144034604,3	K562	blood:
18	chr6:144022138..144024563-chr6:144033976..144035577,2	K562	blood:
19	chr6:144025959..144030073-chr6:144031546..144034604,3	K562	blood:
20	chr6:144022138..144024563-chr6:144033976..144035577,2	K562	blood:
21	chr6:144027649..144029895-chr6:144030018..144031552,2	MCF-7	breast:
22	chr6:144011351..144015622-chr6:144016784..144019989,3	K562	blood:
23	chr6:144018054..144020954-chr6:144022528..144024554,3	MCF-7	breast:
24	chr6:144026361..144028111-chr6:144034125..144036106,2	MCF-7	breast:
25	chr6:144011387..144013559-chr6:144018568..144021455,2	MCF-7	breast:
26	chr6:143831227..143833944-chr6:144017748..144020555,2	MCF-7	breast:
27	chr14:67903168..67904681-chr6:144023662..144026476,2	MCF-7	breast:
28	chr6:144009959..144011502-chr6:144013449..144016270,2	K562	blood:
29	chr17:56707615..56709515-chr6:144027101..144029427,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000001036	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000112419	chromatin interactions

Extended variants
information (count: 896 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:896 , 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	rs9321934	chr6:144010570-144010571	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115245679	chr6:144010649-144010650	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574071857	chr6:144010650-144010651	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562712406	chr6:144010677-144010678	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532936691	chr6:144010697-144010698	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552656490	chr6:144010731-144010732	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570890908	chr6:144010753-144010754	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568925428	chr6:144010833-144010834	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35628481	chr6:144010841-144010842	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80118026	chr6:144010847-144010848	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528544566	chr6:144010860-144010861	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561900267	chr6:144010861-144010862	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546637614	chr6:144010869-144010870	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76829257	chr6:144010881-144010882	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9376779	chr6:144010901-144010902	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557187365	chr6:144010955-144010956	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147055830	chr6:144010968-144010969	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376856242	chr6:144010986-144010987	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539608012	chr6:144011000-144011001	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558312856	chr6:144011015-144011016	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572878308	chr6:144011026-144011027	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116702972	chr6:144011027-144011028	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12525974	chr6:144011042-144011043	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9496732	chr6:144011112-144011113	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138142084	chr6:144011169-144011170	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562611714	chr6:144011177-144011178	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34124574	chr6:144011189-144011190	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533239907	chr6:144011196-144011197	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143628427	chr6:144011197-144011198	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35455238	chr6:144011207-144011208	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560292237	chr6:144011211-144011212	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116883756	chr6:144011213-144011214	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546650047	chr6:144011222-144011223	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547235808	chr6:144011223-144011224	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377544557	chr6:144011303-144011304	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568120327	chr6:144011322-144011323	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529223951	chr6:144011325-144011326	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551274658	chr6:144011331-144011332	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs80086802	chr6:144011345-144011346	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540106466	chr6:144011354-144011355	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117549064	chr6:144011362-144011363	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186264243	chr6:144011406-144011407	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549642997	chr6:144011485-144011486	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533884096	chr6:144011504-144011505	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555455616	chr6:144011543-144011544	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368029330	chr6:144011546-144011547	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59161180	chr6:144011555-144011556	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35778041	chr6:144011592-144011593	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190291409	chr6:144011613-144011614	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556101965	chr6:144011647-144011648	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144001800-144012200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:144002000-144013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:144002800-144011200	Weak transcription	Hela-S3	cervix
4	chr6:144003600-144015000	Weak transcription	Esophagus	oesophagus
5	chr6:144003600-144015000	Weak transcription	Gastric	stomach
6	chr6:144004400-144013000	Weak transcription	Fetal Kidney	kidney
7	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:144005600-144016000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:144005800-144015200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:144006000-144011000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:144006000-144013200	Weak transcription	Small Intestine	intestine
12	chr6:144006000-144017800	Weak transcription	Fetal Heart	heart
13	chr6:144007800-144011800	Enhancers	Left Ventricle	heart
14	chr6:144007800-144013200	Enhancers	HepG2	liver
15	chr6:144007800-144013600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:144008000-144011200	Enhancers	HSMMtube	muscle
17	chr6:144008000-144014000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:144008200-144012000	Weak transcription	Liver	Liver
19	chr6:144008400-144012800	Weak transcription	Fetal Intestine Large	intestine
20	chr6:144008600-144011600	Enhancers	Psoas Muscle	Psoas
21	chr6:144008600-144015000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:144008800-144011400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:144008800-144011600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:144008800-144015000	Weak transcription	NHEK	skin
25	chr6:144009000-144011200	Weak transcription	Fetal Lung	lung
26	chr6:144009000-144011200	Weak transcription	HSMM	muscle
27	chr6:144009000-144011400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:144009000-144011600	Enhancers	Right Ventricle	heart
29	chr6:144009000-144013400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:144009000-144015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:144009200-144010600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:144009200-144011200	Weak transcription	NH-A	brain
33	chr6:144009200-144011600	Enhancers	Aorta	Aorta
34	chr6:144009200-144015000	Weak transcription	HMEC	breast
35	chr6:144009200-144016200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:144009400-144010800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:144009400-144011200	Weak transcription	Adipose Nuclei	Adipose
38	chr6:144009400-144011600	Enhancers	Lung	lung
39	chr6:144009400-144011600	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:144009400-144011600	Weak transcription	HUVEC	blood vessel
41	chr6:144009400-144012800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:144009400-144015600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:144009400-144016600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:144009600-144010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:144009600-144010600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:144009600-144011000	Weak transcription	Osteobl	bone
47	chr6:144009600-144011200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:144009600-144011200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:144009600-144011400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:144009600-144013000	Weak transcription	Rectal Smooth Muscle	rectum

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