Variant report

Variant	nsv886782
Chromosome Location	chr6:153757736-153855165
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:153551820..153552804-chr6:153832962..153833839,3	MCF-7	breast:
2	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:
3	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:
4	chr6:153806444..153808679-chr6:153811134..153812918,2	MCF-7	breast:
5	chr6:153747500..153749938-chr6:153764561..153767093,2	K562	blood:
6	chr6:153323561..153325698-chr6:153833615..153836225,2	K562	blood:
7	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:
8	chr6:153633466..153634018-chr6:153833051..153833685,2	MCF-7	breast:
9	chr6:153806444..153808679-chr6:153811134..153812918,2	MCF-7	breast:
10	chr1:109931233..109932150-chr6:153783458..153784309,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213121	chromatin interactions
ENSG00000112031	chromatin interactions

Extended variants
information (count: 1493 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1493 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs270309	chr6:153757736-153757737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568598099	chr6:153757758-153757759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139693238	chr6:153757800-153757801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568596223	chr6:153757809-153757810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185725223	chr6:153757822-153757823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567801760	chr6:153757823-153757824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374861154	chr6:153757824-153757825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78393098	chr6:153757842-153757843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190554007	chr6:153757865-153757866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11155911	chr6:153757867-153757868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115184606	chr6:153757931-153757932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12526708	chr6:153757974-153757975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181874579	chr6:153757999-153758000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537278351	chr6:153758012-153758013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555815702	chr6:153758061-153758062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574238522	chr6:153758071-153758072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369069413	chr6:153758104-153758105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111762537	chr6:153758156-153758157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17084089	chr6:153758188-153758189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572009859	chr6:153758190-153758191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9371288	chr6:153758217-153758218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73014496	chr6:153758220-153758221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372204348	chr6:153758223-153758224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538153	chr6:153758247-153758248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564388106	chr6:153758260-153758261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7770894	chr6:153758261-153758262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35708854	chr6:153758288-153758289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567684707	chr6:153758289-153758290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371433902	chr6:153758290-153758291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550048788	chr6:153758310-153758311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149764351	chr6:153758370-153758371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529326673	chr6:153758377-153758378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547870339	chr6:153758421-153758422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9479602	chr6:153758432-153758433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4291105	chr6:153758443-153758444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4291106	chr6:153758453-153758454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4291107	chr6:153758456-153758457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374895655	chr6:153758512-153758513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186212499	chr6:153758530-153758531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144741340	chr6:153758534-153758535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368505961	chr6:153758549-153758550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537246907	chr6:153758558-153758559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190190866	chr6:153758563-153758564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181337971	chr6:153758567-153758568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs207467531	chr6:153758576-153758577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535157664	chr6:153758591-153758592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553854089	chr6:153758610-153758611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571911879	chr6:153758656-153758657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139993684	chr6:153758745-153758746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199811927	chr6:153758791-153758792	Weak transcription Enhancers	n/a	n/a	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
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153756200-153759400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:153756600-153758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:153756600-153758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:153756600-153759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:153756800-153757800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:153756800-153757800	Enhancers	HMEC	breast
7	chr6:153756800-153758000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:153756800-153758000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:153756800-153758800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:153756800-153759200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:153756800-153759200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:153756800-153759200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:153757000-153758800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:153757200-153761400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:153757600-153757800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:153757600-153757800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:153757800-153759200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:153758000-153761400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:153758000-153764000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:153758000-153764200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:153758600-153758800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:153758800-153759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:153758800-153760000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:153759200-153759400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:153759200-153759400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:153759200-153761400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:153759200-153761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:153759200-153762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:153759200-153762800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:153759400-153759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:153759400-153760400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:153759800-153761200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:153760000-153760600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:153760000-153760800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:153760400-153761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:153760600-153762600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:153760800-153762800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:153761000-153761400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:153761200-153761600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:153761200-153761800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:153761400-153761600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:153761400-153762000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:153761400-153762000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:153761400-153763200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:153761400-153764800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:153761600-153762200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:153761600-153762800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:153761600-153764800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:153762000-153762800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:153762000-153763200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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