Variant report

Variant	nsv969353
Chromosome Location	chr6:24976770-24978040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24976124..24977155-chr7:44835947..44837437,19	Hela-S3	cervix:
2	chr6:24976141..24977148-chr7:44835918..44836756,6	NB4	blood:

Variant related genes	Relation type
ENSG00000196262	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575610222	chr6:24976779-24976780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544223557	chr6:24976797-24976798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185696973	chr6:24976807-24976808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189127763	chr6:24976819-24976820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547035498	chr6:24976822-24976823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193047942	chr6:24976826-24976827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532495445	chr6:24976852-24976853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552149423	chr6:24976860-24976861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71544607	chr6:24976900-24976901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568951262	chr6:24976917-24976918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538490074	chr6:24976918-24976919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4127053	chr6:24976963-24976964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4127052	chr6:24976998-24976999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4127051	chr6:24976999-24977000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548602085	chr6:24977008-24977009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184494797	chr6:24977009-24977010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140733920	chr6:24977019-24977020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1905129	chr6:24977038-24977039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1061277	chr6:24977095-24977096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369112793	chr6:24977097-24977098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4127050	chr6:24977104-24977105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554440751	chr6:24977115-24977116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150474528	chr6:24977133-24977134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538788197	chr6:24977136-24977137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558579724	chr6:24977142-24977143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575142371	chr6:24977164-24977165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544449994	chr6:24977166-24977167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9393601	chr6:24977174-24977175	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574708849	chr6:24977193-24977194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540028952	chr6:24977195-24977196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374439104	chr6:24977198-24977199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188129175	chr6:24977271-24977272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569238222	chr6:24977279-24977280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9393602	chr6:24977287-24977288	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545901793	chr6:24977306-24977307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369440857	chr6:24977317-24977318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565886043	chr6:24977359-24977360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181411576	chr6:24977406-24977407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184155596	chr6:24977422-24977423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146988665	chr6:24977441-24977442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139305452	chr6:24977443-24977444	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376834380	chr6:24977444-24977445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79335288	chr6:24977513-24977514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139940652	chr6:24977514-24977515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398072717	chr6:24977519-24977520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9358812	chr6:24977525-24977526	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377492850	chr6:24977584-24977585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9358813	chr6:24977591-24977592	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368933133	chr6:24977600-24977601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528016876	chr6:24977610-24977611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Osteosarcoma	16790693	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
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24950400-24988600	Weak transcription	Dnd41	blood
2	chr6:24954400-24980800	Weak transcription	Thymus	Thymus
3	chr6:24969200-24980800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:24969400-24980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:24973400-24979200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:24975000-24978800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:24975000-24979000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:24975000-24979200	Weak transcription	HSMM	muscle
9	chr6:24975000-24979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:24975200-24979200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:24975400-24980600	Weak transcription	Primary T cells from cord blood	blood
12	chr6:24975400-24980800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:24975800-24978600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:24975800-24979200	Weak transcription	Primary B cells from cord blood	blood
15	chr6:24975800-24980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:24976000-24977400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:24976000-24977800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:24976000-24978800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:24976000-24979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:24976000-24979000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:24976000-24979200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:24976000-24979400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:24976000-24979800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:24976000-24980800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:24976000-24980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:24976400-24979200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:24976400-24979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:24976600-24981600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:24977000-24977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:24977400-24977800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:24977600-24978400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:24977800-24978200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:24977800-24978200	Enhancers	Ovary	ovary
34	chr6:24977800-24978600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:24977800-24978800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:24977800-24979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:24977800-24980200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:24977800-24982000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr6:24977800-24982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:24977800-24986000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:24978000-24978200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr6:24978000-24980600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:24978000-24980800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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