Variant report

Variant	esv2592028
Chromosome Location	chr6:24810891-24818558
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	FOXA1	chr6:24810559-24811039	HepG2	liver:	n/a	chr6:24810878-24810890
3	FOXA1	chr6:24810818-24810995	A549	lung:	n/a	chr6:24810878-24810890
4	FOXA1	chr6:24818433-24818768	HepG2	liver:	n/a	n/a
5	FOXA2	chr6:24817300-24817750	A549	lung:	n/a	n/a
6	FOXA2	chr6:24817135-24817610	A549	lung:	n/a	n/a
7	FOXA2	chr6:24810718-24810993	HepG2	liver:	n/a	chr6:24810878-24810890
8	POLR2A	chr6:24809223-24813228	K562	blood:	n/a	n/a
9	POLR2A	chr6:24818254-24818388	ProgFib	skin:	n/a	n/a
10	POLR2A	chr6:24813462-24818091	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: 109 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370056241	chr6:24810990-24810991	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112988756	chr6:24810993-24810994	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570764649	chr6:24810994-24810995	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397763291	chr6:24811000-24811001	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539787755	chr6:24811001-24811002	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556262808	chr6:24811003-24811004	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115693112	chr6:24811004-24811005	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56926383	chr6:24811053-24811054	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138939028	chr6:24811073-24811074	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540223377	chr6:24811094-24811095	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6931983	chr6:24811131-24811132	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6931984	chr6:24811135-24811136	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558391168	chr6:24811157-24811158	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6932132	chr6:24811181-24811182	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545759428	chr6:24811189-24811190	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562604085	chr6:24811196-24811197	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531422874	chr6:24811205-24811206	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569558818	chr6:24811259-24811260	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs58306945	chr6:24811260-24811261	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563460601	chr6:24811274-24811275	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561867401	chr6:24811281-24811282	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530692008	chr6:24811308-24811309	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144006704	chr6:24811314-24811315	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570699344	chr6:24811350-24811351	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533200809	chr6:24811421-24811422	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185850357	chr6:24811433-24811434	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112501283	chr6:24811460-24811461	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61620247	chr6:24811476-24811477	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs59559836	chr6:24811483-24811484	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569856708	chr6:24811500-24811501	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs60395865	chr6:24811501-24811502	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111726173	chr6:24811537-24811538	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374403465	chr6:24811551-24811552	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	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
35	rs191126733	chr6:24811595-24811596	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534753892	chr6:24811604-24811605	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112952151	chr6:24811618-24811619	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558193791	chr6:24811642-24811643	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11297950	chr6:24811647-24811648	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs182097776	chr6:24811654-24811655	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6912790	chr6:24811660-24811661	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6933295	chr6:24811680-24811681	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576060454	chr6:24811684-24811685	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186869799	chr6:24811702-24811703	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6932875	chr6:24811706-24811707	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527516713	chr6:24811741-24811742	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs199820403	chr6:24811745-24811746	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557197396	chr6:24811836-24811837	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs76886478	chr6:24811888-24811889	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201780968	chr6:24811892-24811893	Weak transcription Strong transcription	TF binding 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:131 , 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	chr6:24801600-24811200	Strong transcription	Primary T cells from cord blood	blood
18	chr6:24802000-24811000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr6:24802000-24811000	Strong transcription	Fetal Thymus	thymus
20	chr6:24802000-24811600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:24802000-24811800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:24802000-24811800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:24802000-24812000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:24802400-24811600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:24802400-24811600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:24802400-24811800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:24802400-24811800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:24802600-24812000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:24802600-24834200	Weak transcription	HSMM	muscle
30	chr6:24802800-24827400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:24803200-24811000	Strong transcription	HSMMtube	muscle
32	chr6:24803400-24817800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:24803400-24827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:24804800-24811200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:24804800-24858200	Weak transcription	Gastric	stomach
36	chr6:24805000-24811400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:24805000-24811400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:24805000-24812000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:24806200-24842400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:24806400-24811200	Strong transcription	Brain Anterior Caudate	brain
41	chr6:24808400-24817800	Weak transcription	Dnd41	blood
42	chr6:24808600-24823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:24808800-24845600	Weak transcription	Fetal Stomach	stomach
44	chr6:24809000-24823200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:24809400-24811000	Enhancers	HepG2	liver
46	chr6:24809400-24811400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:24809800-24820600	Weak transcription	Placenta	Placenta
48	chr6:24809800-24827400	Weak transcription	GM12878-XiMat	blood
49	chr6:24809800-24839200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:24810000-24818600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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