Variant report

Variant	nsv970674
Chromosome Location	chr6:25559891-25564508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25563781..25566387-chr6:25576690..25578785,2	K562	blood:
2	chr6:25558691..25560985-chr6:26021184..26023222,2	MCF-7	breast:
3	chr6:25553463..25555118-chr6:25558939..25560459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196176	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214054	chr6:25559898-25559899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558431665	chr6:25559938-25559939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113567595	chr6:25559978-25559979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570488922	chr6:25560003-25560004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572252361	chr6:25560064-25560065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34851822	chr6:25560128-25560129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189431529	chr6:25560169-25560170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs214055	chr6:25560264-25560265	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181319397	chr6:25560330-25560331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75129263	chr6:25560354-25560355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531572186	chr6:25560371-25560372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185495951	chr6:25560399-25560400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148765483	chr6:25560429-25560430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189918055	chr6:25560430-25560431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182953843	chr6:25560483-25560484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532029686	chr6:25560487-25560488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112123360	chr6:25560547-25560548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548529444	chr6:25560558-25560559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185730178	chr6:25560573-25560574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568637286	chr6:25560628-25560629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115221713	chr6:25560631-25560632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546685899	chr6:25560636-25560637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565020736	chr6:25560661-25560662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117827534	chr6:25560675-25560676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532236120	chr6:25560676-25560677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115852371	chr6:25560687-25560688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568846216	chr6:25560712-25560713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142424840	chr6:25560726-25560727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554512858	chr6:25560727-25560728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372867154	chr6:25560748-25560749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114330393	chr6:25560771-25560772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536137522	chr6:25560776-25560777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371986839	chr6:25560803-25560804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527550858	chr6:25560847-25560848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554239810	chr6:25560925-25560926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530342718	chr6:25560953-25560954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577382206	chr6:25561015-25561016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546256034	chr6:25561041-25561042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562851535	chr6:25561099-25561100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150849768	chr6:25561123-25561124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375090819	chr6:25561139-25561140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542502483	chr6:25561219-25561220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562204356	chr6:25561235-25561236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368786865	chr6:25561238-25561239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547648752	chr6:25561307-25561308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559831041	chr6:25561308-25561309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532062726	chr6:25561329-25561330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112825079	chr6:25561425-25561426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568508560	chr6:25561486-25561487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537789645	chr6:25561561-25561562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25471600-25597200	Weak transcription	Gastric	stomach
2	chr6:25516800-25606400	Weak transcription	Lung	lung
3	chr6:25522400-25588600	Weak transcription	HMEC	breast
4	chr6:25523000-25577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:25530800-25584200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:25538600-25563600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:25538600-25592800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:25539000-25561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:25539200-25582000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:25539600-25565200	Weak transcription	Aorta	Aorta
11	chr6:25540600-25580200	Weak transcription	Fetal Thymus	thymus
12	chr6:25541400-25576200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:25541600-25584400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:25541600-25612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:25542400-25563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:25543800-25562000	Weak transcription	Adipose Nuclei	Adipose
17	chr6:25544000-25593600	Weak transcription	Fetal Lung	lung
18	chr6:25544600-25565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:25547200-25600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:25551400-25565400	Weak transcription	Fetal Intestine Large	intestine
21	chr6:25553800-25565200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:25554200-25563800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:25554400-25567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:25556200-25618000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:25557200-25560200	Weak transcription	Pancreas	Pancrea
26	chr6:25557200-25591400	Weak transcription	Ovary	ovary
27	chr6:25559200-25560000	Strong transcription	Primary T cells from cord blood	blood
28	chr6:25559600-25560000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:25560000-25563400	Weak transcription	Primary T cells from cord blood	blood
30	chr6:25560000-25565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:25563400-25568000	Strong transcription	Primary T cells from cord blood	blood
32	chr6:25563600-25564200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:25563600-25565400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr6:25563800-25564400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:25564200-25582600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:25564400-25576800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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