Variant report

Variant	esv3416985
Chromosome Location	chr6:24811546-24818181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:24817780-24817851	GM10248	blood:	n/a	n/a
2	FOXA2	chr6:24817135-24817610	A549	lung:	n/a	n/a
3	FOXA2	chr6:24817300-24817750	A549	lung:	n/a	n/a
4	POLR2A	chr6:24813462-24818091	K562	blood:	n/a	n/a
5	POLR2A	chr6:24809223-24813228	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24720760..24722445-chr6:24809512..24811592,2	K562	blood:

Variant related genes	Relation type
FAM65B	TF binding region
ENSG00000112308	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374403465	chr6:24811551-24811552	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6932829	chr6:24811571-24811572	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191126733	chr6:24811595-24811596	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534753892	chr6:24811604-24811605	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112952151	chr6:24811618-24811619	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558193791	chr6:24811642-24811643	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11297950	chr6:24811647-24811648	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs182097776	chr6:24811654-24811655	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6912790	chr6:24811660-24811661	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6933295	chr6:24811680-24811681	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576060454	chr6:24811684-24811685	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186869799	chr6:24811702-24811703	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6932875	chr6:24811706-24811707	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527516713	chr6:24811741-24811742	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs199820403	chr6:24811745-24811746	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557197396	chr6:24811836-24811837	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76886478	chr6:24811888-24811889	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201780968	chr6:24811892-24811893	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113332898	chr6:24811918-24811919	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139627787	chr6:24811919-24811920	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs191707403	chr6:24812008-24812009	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373852639	chr6:24812176-24812177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367656728	chr6:24812205-24812206	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370588250	chr6:24812230-24812231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374852291	chr6:24812256-24812257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62401978	chr6:24812500-24812501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564259232	chr6:24812563-24812564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs533246077	chr6:24812597-24812598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549813052	chr6:24812601-24812602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563348234	chr6:24812604-24812605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529211538	chr6:24812830-24812831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs9767140	chr6:24813565-24813566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs113272808	chr6:24813844-24813845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554213719	chr6:24814749-24814750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs367960201	chr6:24815563-24815564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11514636	chr6:24815568-24815569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375423696	chr6:24815727-24815728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368660958	chr6:24815834-24815835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372709094	chr6:24815907-24815908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62401979	chr6:24816038-24816039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200781758	chr6:24816070-24816071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376662177	chr6:24816137-24816138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549083208	chr6:24816430-24816431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566141897	chr6:24816431-24816432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547432730	chr6:24817809-24817810	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62401980	chr6:24817833-24817834	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113084351	chr6:24817914-24817915	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201913521	chr6:24817950-24817951	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9467323	chr6:24817960-24817961	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551938916	chr6:24818136-24818137	Flanking Active TSS Weak transcription ZNF genes & repeats 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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24811600	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
4	chr6:24788000-24832000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:24789200-24842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:24798200-24827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:24798200-24841200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:24800000-24843200	Weak transcription	Liver	Liver
10	chr6:24800400-24821800	Weak transcription	Fetal Heart	heart
11	chr6:24800800-24811800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:24800800-24811800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:24801000-24812000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:24801200-24811800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:24801200-24812000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr6:24801400-24811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:24802000-24811600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr6:24802000-24811800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:24802000-24811800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:24802000-24812000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:24802400-24811600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:24802400-24811600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:24802400-24811800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:24802400-24811800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:24802600-24812000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:24802600-24834200	Weak transcription	HSMM	muscle
27	chr6:24802800-24827400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:24803400-24817800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:24803400-24827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:24804800-24858200	Weak transcription	Gastric	stomach
31	chr6:24805000-24812000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:24806200-24842400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:24808400-24817800	Weak transcription	Dnd41	blood
34	chr6:24808600-24823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:24808800-24845600	Weak transcription	Fetal Stomach	stomach
36	chr6:24809000-24823200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:24809800-24820600	Weak transcription	Placenta	Placenta
38	chr6:24809800-24827400	Weak transcription	GM12878-XiMat	blood
39	chr6:24809800-24839200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:24810000-24818600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:24810000-24824400	Weak transcription	NHDF-Ad	bronchial
42	chr6:24810000-24827400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:24810000-24831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:24810000-24832600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:24810200-24821800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:24810200-24827400	Weak transcription	Brain Germinal Matrix	brain
47	chr6:24810400-24818000	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:24810400-24818600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:24810400-24821800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:24810400-24821800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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