Variant report

Variant	nsv603637
Chromosome Location	chr6:70658432-70740151
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:3)
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	chr6:70662410..70664369-chr6:70665696..70668642,2	K562	blood:
2	chr6:70656949..70658468-chr6:70663252..70666166,2	K562	blood:
3	chr6:70669047..70671933-chr6:70674110..70676745,3	MCF-7	breast:
4	chr6:70661572..70663140-chr6:70670607..70672802,2	MCF-7	breast:
5	chr6:70664026..70665656-chr6:70667734..70669345,2	K562	blood:
6	chr6:70656949..70658468-chr6:70663252..70666166,2	K562	blood:
7	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:
8	chr6:70661572..70663140-chr6:70670607..70672802,2	MCF-7	breast:
9	chr6:70662410..70664369-chr6:70665696..70668642,2	K562	blood:
10	chr6:70664026..70665656-chr6:70667734..70669345,2	K562	blood:
11	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
12	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:
13	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
14	chr6:70637494..70639409-chr6:70659032..70661217,2	K562	blood:
15	chr6:70733478..70735674-chr6:111948074..111949663,2	MCF-7	breast:
16	chr6:70669047..70671933-chr6:70674110..70676745,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM135A-5	chr6:70669888-70669932	NONHSAT113426
2	lnc-FAM135A-5	chr6:70672718-70672762	NONHSAT113426
3	lnc-FAM135A-5	chr6:70683731-70684088	NONHSAT113426

No data

Extended variants
information (count: 2647 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2647 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10485244	chr6:70658432-70658433	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369624644	chr6:70658458-70658459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553305506	chr6:70658469-70658470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72914573	chr6:70658498-70658499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137979963	chr6:70658507-70658508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3805967	chr6:70658566-70658567	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35791609	chr6:70658705-70658706	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544633762	chr6:70658747-70658748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555625160	chr6:70658756-70658757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575275690	chr6:70658802-70658803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539981190	chr6:70658841-70658842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544198963	chr6:70658892-70658893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564458888	chr6:70658929-70658930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376508974	chr6:70658931-70658932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532286636	chr6:70659027-70659028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117113003	chr6:70659079-70659080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142565048	chr6:70659085-70659086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79232306	chr6:70659096-70659097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116195724	chr6:70659097-70659098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549336118	chr6:70659119-70659120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575494949	chr6:70659120-70659121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3828764	chr6:70659139-70659140	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551404361	chr6:70659156-70659157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571187032	chr6:70659280-70659281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72914575	chr6:70659281-70659282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547446590	chr6:70659351-70659352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148700171	chr6:70659368-70659369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535644929	chr6:70659414-70659415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555688844	chr6:70659415-70659416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575537557	chr6:70659434-70659435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538111476	chr6:70659472-70659473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73482138	chr6:70659491-70659492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs118090462	chr6:70659555-70659556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540402425	chr6:70659596-70659597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528163542	chr6:70659656-70659657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3805968	chr6:70659672-70659673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9454923	chr6:70659712-70659713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562630320	chr6:70659782-70659783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376430633	chr6:70659787-70659788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531653088	chr6:70659825-70659826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9454924	chr6:70659863-70659864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545294207	chr6:70659897-70659898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186176136	chr6:70659911-70659912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527263378	chr6:70659942-70659943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547217454	chr6:70659968-70659969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190759099	chr6:70660000-70660001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181829931	chr6:70660075-70660076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549175449	chr6:70660148-70660149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565008718	chr6:70660163-70660164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569077500	chr6:70660194-70660195	Weak transcription Enhancers	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	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70648800-70658800	Weak transcription	GM12878-XiMat	blood
2	chr6:70654200-70671400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:70654400-70667000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:70658200-70659400	Strong transcription	Primary B cells from cord blood	blood
5	chr6:70658200-70661200	Enhancers	Fetal Heart	heart
6	chr6:70658400-70659000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:70658400-70659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:70658400-70660800	Enhancers	HSMM	muscle
9	chr6:70658600-70660800	Enhancers	HSMMtube	muscle
10	chr6:70658800-70659000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:70658800-70659200	Enhancers	GM12878-XiMat	blood
12	chr6:70659000-70660400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:70659200-70672000	Weak transcription	GM12878-XiMat	blood
14	chr6:70659400-70669400	Weak transcription	Primary B cells from cord blood	blood
15	chr6:70660400-70660600	Enhancers	Fetal Brain Male	brain
16	chr6:70660400-70660800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:70660600-70662000	Weak transcription	Fetal Brain Male	brain
18	chr6:70660800-70661800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:70660800-70663400	Weak transcription	HSMMtube	muscle
20	chr6:70661200-70661600	Weak transcription	Fetal Heart	heart
21	chr6:70661600-70664400	Enhancers	Fetal Heart	heart
22	chr6:70661800-70663000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:70661800-70663800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:70662000-70664400	Enhancers	Fetal Brain Male	brain
25	chr6:70662400-70662800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:70663000-70663600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:70663400-70663600	Enhancers	Left Ventricle	heart
28	chr6:70663400-70664200	Enhancers	HSMMtube	muscle
29	chr6:70663600-70664200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:70663600-70664400	Enhancers	Psoas Muscle	Psoas
31	chr6:70663800-70664400	Enhancers	Fetal Muscle Leg	muscle
32	chr6:70663800-70669000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:70664200-70664400	Enhancers	Left Ventricle	heart
34	chr6:70664200-70670800	Weak transcription	HSMMtube	muscle
35	chr6:70664400-70671800	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:70666000-70666200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:70667000-70668200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:70668000-70668200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:70668000-70668400	Enhancers	HSMM	muscle
40	chr6:70668200-70669600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:70668200-70670800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:70668200-70671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:70668400-70670800	Weak transcription	HSMM	muscle
44	chr6:70669000-70669600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:70669000-70669800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:70669400-70676000	Strong transcription	Primary B cells from cord blood	blood
47	chr6:70669600-70673800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:70670800-70671600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:70670800-70672000	Enhancers	HSMM	muscle
50	chr6:70670800-70672200	Enhancers	Skeletal Muscle Female	skeletal muscle

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