Variant report

Variant	nsv819104
Chromosome Location	chr6:24843233-24843677
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	chr6:24837779..24840617-chr6:24842334..24845035,3	K562	blood:
2	chr6:24837779..24840542-chr6:24842334..24844134,2	K562	blood:

Variant related genes	Relation type
ENSG00000263391	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192301153	chr6:24843255-24843256	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs202204524	chr6:24843287-24843288	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377499174	chr6:24843327-24843328	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374936397	chr6:24843329-24843330	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142889670	chr6:24843334-24843335	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372186044	chr6:24843351-24843352	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375474134	chr6:24843368-24843369	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369450376	chr6:24843423-24843424	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373153256	chr6:24843437-24843438	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35780910	chr6:24843452-24843453	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201683408	chr6:24843466-24843467	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376099487	chr6:24843472-24843473	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370413269	chr6:24843478-24843479	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200262598	chr6:24843491-24843492	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151067857	chr6:24843495-24843496	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370822188	chr6:24843513-24843514	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374293391	chr6:24843515-24843516	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368649878	chr6:24843522-24843523	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35514577	chr6:24843527-24843528	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142328958	chr6:24843550-24843551	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367599631	chr6:24843581-24843582	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371396396	chr6:24843585-24843586	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562003161	chr6:24843586-24843587	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200686463	chr6:24843618-24843619	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547393684	chr6:24843624-24843625	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201450707	chr6:24843627-24843628	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34298086	chr6:24843655-24843656	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372911808	chr6:24843677-24843678	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
3	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:24804800-24858200	Weak transcription	Gastric	stomach
5	chr6:24808800-24845600	Weak transcription	Fetal Stomach	stomach
6	chr6:24817800-24854400	Strong transcription	Primary B cells from cord blood	blood
7	chr6:24817800-24855800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:24818600-24855800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:24818800-24856000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:24818800-24856400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:24822600-24844000	Weak transcription	Fetal Heart	heart
12	chr6:24830400-24855800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:24832400-24859600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:24833000-24857800	Weak transcription	Brain Angular Gyrus	brain
15	chr6:24833200-24845400	Weak transcription	NHDF-Ad	bronchial
16	chr6:24834600-24844400	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:24834600-24851600	Weak transcription	HSMM	muscle
18	chr6:24836000-24857200	Weak transcription	Fetal Brain Female	brain
19	chr6:24836200-24845800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:24836200-24847600	Weak transcription	Left Ventricle	heart
21	chr6:24836600-24844400	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:24837000-24843800	Weak transcription	Right Ventricle	heart
23	chr6:24837000-24855800	Weak transcription	Ovary	ovary
24	chr6:24837800-24848400	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr6:24837800-24850000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:24837800-24856000	Strong transcription	Fetal Thymus	thymus
27	chr6:24838000-24856400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:24838200-24854800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr6:24838200-24856000	Strong transcription	Placenta	Placenta
30	chr6:24838200-24856400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:24838400-24843600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:24838400-24849000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:24838400-24851800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:24838800-24855800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:24839000-24854800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:24839200-24845600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:24839200-24846000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:24839200-24846400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:24839200-24853600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr6:24839400-24844200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:24839400-24844600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:24839600-24843600	Genic enhancers	Primary T cells from cord blood	blood
43	chr6:24839600-24846200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:24839600-24858800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:24840400-24843800	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:24840400-24854600	Strong transcription	HSMMtube	muscle
47	chr6:24840400-24854800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:24840400-24854800	Strong transcription	Thymus	Thymus
49	chr6:24840400-24856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:24840600-24843400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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