Variant report

Variant	nsv830690
Chromosome Location	chr6:73391428-73574304
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:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:
2	chr6:73481887..73484046-chr6:73486664..73488403,2	K562	blood:
3	chr6:73521424..73523959-chr6:73529159..73530679,2	K562	blood:
4	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
5	chr6:73332641..73334454-chr6:73519427..73521172,2	K562	blood:
6	chr6:73507973..73509853-chr6:73519641..73522635,2	K562	blood:
7	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
8	chr6:73331613..73333929-chr6:73394207..73395955,2	K562	blood:
9	chr6:73414426..73415387-chr6:73821209..73822009,2	MCF-7	breast:
10	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
11	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
12	chr6:73414396..73415444-chr6:73839415..73839971,4	MCF-7	breast:
13	chr6:73485870..73488428-chr6:73490842..73492773,2	K562	blood:
14	chr6:73121613..73122518-chr6:73414359..73415239,2	MCF-7	breast:
15	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
16	chr6:73481887..73484046-chr6:73486664..73488403,2	K562	blood:
17	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:
18	chr6:73331043..73333929-chr6:73392586..73395955,3	K562	blood:
19	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:
20	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
21	chr6:73507973..73509853-chr6:73519641..73522635,2	K562	blood:
22	chr6:73507068..73509853-chr6:73518738..73522635,3	K562	blood:
23	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
24	chr6:73485870..73488428-chr6:73490842..73492773,2	K562	blood:
25	chr6:73521424..73523959-chr6:73529159..73530679,2	K562	blood:
26	chr6:73507068..73509853-chr6:73518738..73522635,3	K562	blood:
27	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-257K9.7.1-2	chr6:73437950-73438152	ENSG00000232868.1
2	lnc-RP11-257K9.7.1-2	chr6:73438280-73438464	ENSG00000232868.1

No data

Variant related genes	Relation type
ENSG00000185760	chromatin interactions

Extended variants
information (count: 6291 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6291 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75637070	chr6:73391436-73391437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541723392	chr6:73391443-73391444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370038897	chr6:73391517-73391518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560058969	chr6:73391521-73391522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533681064	chr6:73391526-73391527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569583024	chr6:73391620-73391621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372139260	chr6:73391631-73391632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77506147	chr6:73391667-73391668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549253402	chr6:73391677-73391678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568232011	chr6:73391684-73391685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535297577	chr6:73391692-73391693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72935423	chr6:73391743-73391744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577857716	chr6:73391772-73391773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113658733	chr6:73391776-73391777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545212464	chr6:73391829-73391830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73535765	chr6:73391909-73391910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557690924	chr6:73391920-73391921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559076231	chr6:73391939-73391940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565984303	chr6:73391947-73391948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558781131	chr6:73391963-73391964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537132204	chr6:73391966-73391967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555198891	chr6:73391969-73391970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76133185	chr6:73391994-73391995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541602041	chr6:73392029-73392030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146504137	chr6:73392082-73392083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534771832	chr6:73392136-73392137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578237759	chr6:73392156-73392157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147934898	chr6:73392204-73392205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79047153	chr6:73392312-73392313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs6453596	chr6:73392319-73392320	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189489424	chr6:73392354-73392355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561021619	chr6:73392360-73392361	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528580264	chr6:73392403-73392404	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547149176	chr6:73392420-73392421	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529250901	chr6:73392471-73392472	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141736417	chr6:73392508-73392509	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551419276	chr6:73392527-73392528	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111584341	chr6:73392628-73392629	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569610583	chr6:73392640-73392641	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536614843	chr6:73392644-73392645	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147121576	chr6:73392656-73392657	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567326536	chr6:73392663-73392664	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192215570	chr6:73392664-73392665	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541462303	chr6:73392668-73392669	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553599860	chr6:73392713-73392714	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578234537	chr6:73392743-73392744	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35283995	chr6:73392744-73392745	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115741489	chr6:73392758-73392759	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117348055	chr6:73392772-73392773	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533259321	chr6:73392870-73392871	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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	20409316	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:1240 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:73377200-73399000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:73379400-73412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:73381200-73403600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:73383600-73412200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:73384800-73399800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73385400-73412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:73386200-73399000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:73387200-73392600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:73387200-73399000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:73390200-73392000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:73391400-73392200	Enhancers	GM12878-XiMat	blood
14	chr6:73391400-73392400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:73392200-73393000	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:73392400-73429800	Weak transcription	HSMM	muscle
17	chr6:73392600-73394800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:73393000-73393400	Enhancers	GM12878-XiMat	blood
19	chr6:73393400-73394400	Flanking Active TSS	GM12878-XiMat	blood
20	chr6:73394400-73394800	Enhancers	GM12878-XiMat	blood
21	chr6:73394800-73397000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:73395600-73408800	Weak transcription	HMEC	breast
23	chr6:73396200-73398800	Weak transcription	Osteobl	bone
24	chr6:73397000-73397200	Enhancers	GM12878-XiMat	blood
25	chr6:73397000-73399400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:73397200-73397400	Flanking Active TSS	GM12878-XiMat	blood
27	chr6:73397400-73398200	Enhancers	GM12878-XiMat	blood
28	chr6:73398200-73398600	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:73398600-73399600	Active TSS	GM12878-XiMat	blood
30	chr6:73398800-73399200	Enhancers	Osteobl	bone
31	chr6:73398800-73399800	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:73399000-73399400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:73399000-73399400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:73399000-73399400	Enhancers	Aorta	Aorta
35	chr6:73399000-73399800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:73399000-73399800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:73399400-73419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:73399400-73429200	Weak transcription	Aorta	Aorta
39	chr6:73399400-73438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:73399600-73400400	Flanking Active TSS	GM12878-XiMat	blood
41	chr6:73399800-73401200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:73399800-73402000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:73399800-73402800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:73400400-73401600	Enhancers	GM12878-XiMat	blood
45	chr6:73401000-73401400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:73401000-73401400	Enhancers	Brain Anterior Caudate	brain
47	chr6:73401000-73402000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:73401200-73402200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:73401600-73403800	Weak transcription	GM12878-XiMat	blood
50	chr6:73402000-73403200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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