Variant report

Variant	nsv1015807
Chromosome Location	chr6:70874416-70913489
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:70377788..70380653-chr6:70882323..70884515,2	K562	blood:
2	chr6:70877283..70879932-chr6:70881607..70883898,2	K562	blood:
3	chr6:70877283..70879932-chr6:70881607..70883898,2	K562	blood:
4	chr6:70868106..70871581-chr6:70871760..70875101,3	K562	blood:
5	chr6:70872579..70876213-chr6:70878847..70881996,3	K562	blood:
6	chr6:70872579..70876213-chr6:70878847..70881996,3	K562	blood:
7	chr6:70813298..70814134-chr6:70875999..70876856,3	MCF-7	breast:
8	chr6:70545369..70545991-chr6:70875982..70876527,2	MCF-7	breast:
9	chr6:68596476..68598513-chr6:70873784..70875846,2	K562	blood:
10	chr6:70869804..70872419-chr6:70878975..70880869,2	K562	blood:
11	chr6:70861054..70863597-chr6:70870424..70874641,3	K562	blood:
12	chr6:70877239..70879932-chr6:70881607..70883677,2	K562	blood:
13	chr6:70813406..70814321-chr6:70875992..70876918,4	MCF-7	breast:
14	chr6:70877239..70879932-chr6:70881607..70883677,2	K562	blood:
15	chr6:70867487..70869606-chr6:70872055..70875188,3	K562	blood:
16	chr6:70442429..70443149-chr6:70876304..70876912,2	K562	blood:

No data

Extended variants
information (count: 1500 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1500 , 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	rs371952252	chr6:70874455-70874456	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577216506	chr6:70874472-70874473	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369516806	chr6:70874490-70874491	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546036468	chr6:70874497-70874498	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35114638	chr6:70874541-70874542	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552863437	chr6:70874579-70874580	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs3838681	chr6:70874584-70874585	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs397841393	chr6:70874591-70874592	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142639439	chr6:70874597-70874598	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182975213	chr6:70874633-70874634	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114208425	chr6:70874644-70874645	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575288133	chr6:70874716-70874717	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79357195	chr6:70874717-70874718	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564065007	chr6:70874779-70874780	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188767225	chr6:70874831-70874832	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76431522	chr6:70874834-70874835	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560111670	chr6:70874841-70874842	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528824813	chr6:70874867-70874868	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192691480	chr6:70874890-70874891	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183424003	chr6:70874985-70874986	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9446210	chr6:70875001-70875002	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187450874	chr6:70875010-70875011	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570789417	chr6:70875029-70875030	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146035744	chr6:70875046-70875047	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561911012	chr6:70875110-70875111	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373245894	chr6:70875122-70875123	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541324768	chr6:70875157-70875158	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552974259	chr6:70875195-70875196	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs802173	chr6:70875234-70875235	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs535399365	chr6:70875235-70875236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555138887	chr6:70875299-70875300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547634499	chr6:70875314-70875315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369315540	chr6:70875354-70875355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575937504	chr6:70875384-70875385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372927502	chr6:70875404-70875405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191284788	chr6:70875423-70875424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544255433	chr6:70875497-70875498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200314099	chr6:70875574-70875575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184608438	chr6:70875591-70875592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189397219	chr6:70875608-70875609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111517549	chr6:70875613-70875614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138805373	chr6:70875654-70875655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111720640	chr6:70875730-70875731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560228046	chr6:70875737-70875738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369994904	chr6:70875797-70875798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192647836	chr6:70875806-70875807	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539546633	chr6:70875809-70875810	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548947916	chr6:70875812-70875813	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373268496	chr6:70875818-70875819	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184268877	chr6:70875916-70875917	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70842400-70875200	Weak transcription	GM12878-XiMat	blood
2	chr6:70847600-70874800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70856200-70899400	Weak transcription	Left Ventricle	heart
4	chr6:70871400-70876000	Weak transcription	Fetal Lung	lung
5	chr6:70872800-70876200	Weak transcription	Fetal Kidney	kidney
6	chr6:70873000-70875000	Flanking Active TSS	K562	blood
7	chr6:70873000-70875800	Strong transcription	Primary B cells from cord blood	blood
8	chr6:70874000-70874800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:70874000-70875000	Enhancers	HSMMtube	muscle
10	chr6:70874000-70875200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:70874000-70876000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:70874200-70876000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:70874400-70874600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:70874400-70874800	Enhancers	HSMM	muscle
15	chr6:70874400-70875000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:70874400-70875400	Weak transcription	Pancreas	Pancrea
17	chr6:70874800-70875600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:70874800-70876000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:70874800-70876000	Weak transcription	HSMM	muscle
20	chr6:70875000-70876000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:70875000-70876000	Weak transcription	HSMMtube	muscle
22	chr6:70875000-70876000	Enhancers	K562	blood
23	chr6:70875200-70875600	Enhancers	GM12878-XiMat	blood
24	chr6:70875200-70876200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:70875400-70876200	Enhancers	Pancreas	Pancrea
26	chr6:70875600-70876400	Enhancers	Fetal Muscle Leg	muscle
27	chr6:70875600-70879400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:70875600-70919800	Weak transcription	GM12878-XiMat	blood
29	chr6:70875800-70876000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:70875800-70876000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:70875800-70876400	Weak transcription	Primary B cells from cord blood	blood
32	chr6:70875800-70876600	Enhancers	Fetal Brain Male	brain
33	chr6:70875800-70876800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:70876000-70876200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:70876000-70876200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:70876000-70876200	Enhancers	Fetal Lung	lung
37	chr6:70876000-70876200	Enhancers	Lung	lung
38	chr6:70876000-70876200	Flanking Bivalent TSS/Enh	A549	lung
39	chr6:70876000-70876400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:70876000-70876400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:70876000-70876400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:70876000-70876400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:70876000-70876400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:70876000-70876400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:70876000-70876400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:70876000-70876400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:70876000-70876400	Active TSS	Brain Angular Gyrus	brain
48	chr6:70876000-70876400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr6:70876000-70876400	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:70876000-70876400	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links