Variant report

Variant	nsv7976
Chromosome Location	chr6:149888973-149891110
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149886600..149889254-chr6:149889358..149891247,3	MCF-7	breast:
2	chr6:149888124..149890319-chr6:149910443..149912439,2	MCF-7	breast:
3	chr6:149887503..149889427-chr6:149890997..149894118,3	MCF-7	breast:
4	chr6:149887638..149889418-chr6:149897443..149899421,2	MCF-7	breast:
5	chr6:149887503..149889427-chr6:149890997..149894118,3	MCF-7	breast:
6	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
7	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
8	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
9	chr6:149887426..149891060-chr6:150037726..150040656,4	K562	blood:
10	chr6:149887413..149889033-chr6:149958089..149960817,2	K562	blood:
11	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
12	chr6:149887497..149889067-chr6:149953634..149955368,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000055211	chromatin interactions
ENSG00000186625	chromatin interactions
ENSG00000131023	chromatin interactions
ENSG00000131013	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553068325	chr6:149889006-149889007	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs573321853	chr6:149889012-149889013	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535544087	chr6:149889022-149889023	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555948128	chr6:149889032-149889033	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188374036	chr6:149889034-149889035	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs575386220	chr6:149889083-149889084	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs544392500	chr6:149889085-149889086	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564489177	chr6:149889107-149889108	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs116081979	chr6:149889171-149889172	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs193196755	chr6:149889177-149889178	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539878802	chr6:149889181-149889182	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559862674	chr6:149889188-149889189	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377071078	chr6:149889225-149889226	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552732431	chr6:149889237-149889238	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529007731	chr6:149889246-149889247	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370449433	chr6:149889263-149889264	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs147707560	chr6:149889266-149889267	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562710645	chr6:149889283-149889284	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs570758555	chr6:149889442-149889443	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs368263803	chr6:149889476-149889477	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs531226227	chr6:149889499-149889500	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs556706189	chr6:149889521-149889522	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs531574872	chr6:149889567-149889568	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs73604784	chr6:149889629-149889630	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571591142	chr6:149889671-149889672	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs534063677	chr6:149889674-149889675	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs142444205	chr6:149889765-149889766	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs573560401	chr6:149889805-149889806	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535946456	chr6:149889820-149889821	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs555621692	chr6:149889861-149889862	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146536829	chr6:149889865-149889866	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182910872	chr6:149889869-149889870	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561405278	chr6:149889902-149889903	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139087796	chr6:149889913-149889914	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9498373	chr6:149889987-149889988	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566067278	chr6:149889996-149889997	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535104331	chr6:149890047-149890048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs9331657	chr6:149890053-149890054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574517268	chr6:149890082-149890083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537005142	chr6:149890108-149890109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540545398	chr6:149890129-149890130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556048420	chr6:149890140-149890141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187542572	chr6:149890154-149890155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576277534	chr6:149890236-149890237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192581130	chr6:149890238-149890239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562488447	chr6:149890287-149890288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542192354	chr6:149890307-149890308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150386038	chr6:149890317-149890318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545255301	chr6:149890329-149890330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565039068	chr6:149890345-149890346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149886400-149889200	Active TSS	GM12878-XiMat	blood
2	chr6:149886800-149889000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:149886800-149889000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:149888000-149889000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:149888200-149889000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:149888200-149889000	Flanking Active TSS	Dnd41	blood
7	chr6:149888200-149889200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:149888400-149889000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:149888400-149889000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:149888400-149889000	Enhancers	Stomach Mucosa	stomach
11	chr6:149888400-149889000	Flanking Active TSS	Hela-S3	cervix
12	chr6:149888400-149889000	Flanking Active TSS	HepG2	liver
13	chr6:149888400-149889200	Weak transcription	Psoas Muscle	Psoas
14	chr6:149888400-149889400	Enhancers	Fetal Heart	heart
15	chr6:149888400-149889400	Enhancers	Spleen	Spleen
16	chr6:149888400-149889600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:149888400-149889600	Enhancers	Small Intestine	intestine
18	chr6:149888400-149893800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:149888400-149893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:149888400-149894200	Weak transcription	Ovary	ovary
21	chr6:149888400-149897400	Weak transcription	Lung	lung
22	chr6:149888400-149901600	Weak transcription	Aorta	Aorta
23	chr6:149888400-149902000	Weak transcription	Gastric	stomach
24	chr6:149888400-149911600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:149888600-149889000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:149888600-149889000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:149888600-149889000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:149888600-149889000	Enhancers	Primary B cells from cord blood	blood
29	chr6:149888600-149889000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:149888600-149889000	Enhancers	Brain Hippocampus Middle	brain
31	chr6:149888600-149889000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:149888600-149889000	Enhancers	Fetal Muscle Leg	muscle
33	chr6:149888600-149889000	Enhancers	Placenta	Placenta
34	chr6:149888600-149889000	Enhancers	Pancreas	Pancrea
35	chr6:149888600-149889000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:149888600-149889000	Enhancers	HMEC	breast
37	chr6:149888600-149889000	Enhancers	HSMMtube	muscle
38	chr6:149888600-149889000	Enhancers	HUVEC	blood vessel
39	chr6:149888600-149889000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:149888600-149889000	Enhancers	NHDF-Ad	bronchial
41	chr6:149888600-149889000	Enhancers	Osteobl	bone
42	chr6:149888600-149889200	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:149888600-149889200	Enhancers	Fetal Lung	lung
44	chr6:149888600-149889400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:149888600-149889400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr6:149888600-149889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:149888600-149889400	Enhancers	Liver	Liver
48	chr6:149888600-149889400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:149888600-149889400	Enhancers	Colon Smooth Muscle	Colon
50	chr6:149888600-149889400	Enhancers	Fetal Stomach	stomach

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