Variant report

Variant	esv3339278
Chromosome Location	chr6:24526723-24527871
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	chr6:24526174..24528184-chr6:24717834..24720717,3	K562	blood:

Variant related genes	Relation type
ENSG00000112308	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 103 )

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	rs9467215	chr6:24526741-24526742	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs807519	chr6:24526752-24526753	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs117937573	chr6:24526798-24526799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542041178	chr6:24526827-24526828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200926006	chr6:24526833-24526834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192460824	chr6:24526882-24526883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562091011	chr6:24526937-24526938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527826533	chr6:24526957-24526958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs809419	chr6:24526990-24526991	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564676953	chr6:24527065-24527066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530918624	chr6:24527074-24527075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4055011	chr6:24527097-24527098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3967169	chr6:24527099-24527100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2328826	chr6:24527104-24527105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71686753	chr6:24527105-24527106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9467216	chr6:24527106-24527107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371918141	chr6:24527114-24527115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62400509	chr6:24527115-24527116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62400510	chr6:24527117-24527118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71535569	chr6:24527128-24527129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374587337	chr6:24527129-24527130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536661059	chr6:24527131-24527132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371956497	chr6:24527132-24527133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4055010	chr6:24527133-24527134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539566420	chr6:24527143-24527144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4055009	chr6:24527146-24527147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3032298	chr6:24527154-24527155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3032300	chr6:24527165-24527166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375198882	chr6:24527166-24527167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369145201	chr6:24527167-24527168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534717632	chr6:24527182-24527183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs3032303	chr6:24527185-24527186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370559814	chr6:24527190-24527191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs70974916	chr6:24527194-24527195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372236293	chr6:24527203-24527204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371638478	chr6:24527204-24527205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374661746	chr6:24527214-24527215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372736611	chr6:24527216-24527217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376268951	chr6:24527218-24527219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112017601	chr6:24527229-24527230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58873176	chr6:24527235-24527236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547924673	chr6:24527236-24527237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374188358	chr6:24527271-24527272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77960530	chr6:24527314-24527315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535359761	chr6:24527315-24527316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544597582	chr6:24527327-24527328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9393563	chr6:24527350-24527351	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570335822	chr6:24527353-24527354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532429729	chr6:24527358-24527359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201960110	chr6:24527367-24527368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Myelodysplastic syndrome	21251322	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
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496000-24534200	Weak transcription	Gastric	stomach
2	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
3	chr6:24496200-24527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
7	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
8	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
9	chr6:24496800-24532400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:24497000-24528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:24504400-24534200	Weak transcription	Pancreas	Pancrea
12	chr6:24505400-24534000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:24505800-24527800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:24505800-24530800	Weak transcription	Right Ventricle	heart
15	chr6:24505800-24534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:24505800-24534000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:24506400-24530000	Weak transcription	Placenta	Placenta
18	chr6:24507400-24531400	Weak transcription	Fetal Lung	lung
19	chr6:24507600-24532400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:24507600-24532400	Weak transcription	Fetal Brain Female	brain
21	chr6:24507800-24532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:24507800-24536800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:24507800-24539200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:24509400-24545800	Weak transcription	Small Intestine	intestine
25	chr6:24512400-24533000	Weak transcription	Brain Substantia Nigra	brain
26	chr6:24515000-24532200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:24516000-24530800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:24516000-24531000	Weak transcription	Brain Anterior Caudate	brain
29	chr6:24516000-24534200	Weak transcription	Brain Angular Gyrus	brain
30	chr6:24516200-24527800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:24516200-24532400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:24517400-24532600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:24517600-24532200	Weak transcription	Left Ventricle	heart
34	chr6:24518200-24527400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:24518200-24530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:24518600-24531600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:24518800-24533000	Weak transcription	Spleen	Spleen
38	chr6:24519000-24532200	Weak transcription	Ovary	ovary
39	chr6:24519200-24527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:24519200-24531800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:24519400-24530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:24521400-24532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:24523000-24533000	Weak transcription	Fetal Kidney	kidney
44	chr6:24523000-24534200	Weak transcription	Lung	lung
45	chr6:24523000-24537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:24523200-24532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:24523200-24532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:24523200-24534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:24523200-24534200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:24523200-24534200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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