Variant report

Variant	esv3433945
Chromosome Location	chr6:25389623-25391671
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	chr6:25383605..25386265-chr6:25388595..25390846,2	K562	blood:

Variant related genes	Relation type
ENSG00000207490	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577058631	chr6:25389626-25389627	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35210034	chr6:25389636-25389637	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569680342	chr6:25389648-25389649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77016882	chr6:25389671-25389672	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530623701	chr6:25389689-25389690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs36013233	chr6:25389749-25389750	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552940261	chr6:25389757-25389758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550306091	chr6:25389788-25389789	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560836419	chr6:25389795-25389796	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189602557	chr6:25389798-25389799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11760123	chr6:25389854-25389855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375888072	chr6:25389897-25389898	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73730712	chr6:25389961-25389962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566750389	chr6:25389962-25389963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139409776	chr6:25390001-25390002	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145043868	chr6:25390155-25390156	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72830741	chr6:25390204-25390205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs202116023	chr6:25390221-25390222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569261162	chr6:25390303-25390304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538290980	chr6:25390376-25390377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186425708	chr6:25390449-25390450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375961729	chr6:25390477-25390478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115098760	chr6:25390503-25390504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs397887367	chr6:25390522-25390523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199720265	chr6:25390537-25390538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201988803	chr6:25390538-25390539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199741237	chr6:25390539-25390540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201221848	chr6:25390540-25390541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200679169	chr6:25390541-25390542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529876939	chr6:25390542-25390543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77222039	chr6:25390544-25390545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143727007	chr6:25390546-25390547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556965943	chr6:25390548-25390549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34230226	chr6:25390550-25390551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34526527	chr6:25390551-25390552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200777273	chr6:25390552-25390553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201784066	chr6:25390554-25390555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568551023	chr6:25390578-25390579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4712926	chr6:25390606-25390607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577466004	chr6:25390612-25390613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71555195	chr6:25390639-25390640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563060380	chr6:25390730-25390731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112283151	chr6:25390731-25390732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544288365	chr6:25390811-25390812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144824351	chr6:25390813-25390814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200064937	chr6:25390828-25390829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575626367	chr6:25390866-25390867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9461152	chr6:25390870-25390871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs76214324	chr6:25390880-25390881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183633089	chr6:25390897-25390898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25377400-25410600	Weak transcription	Gastric	stomach
2	chr6:25377800-25395600	Weak transcription	Pancreas	Pancrea
3	chr6:25383000-25403600	Weak transcription	Right Atrium	heart
4	chr6:25383600-25405000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:25384200-25391600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:25384800-25390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:25385600-25390400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:25386400-25390800	Enhancers	Fetal Thymus	thymus
9	chr6:25387000-25389800	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:25387400-25389800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:25388200-25389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:25388200-25390200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:25388200-25392800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:25388400-25390200	Enhancers	GM12878-XiMat	blood
15	chr6:25388400-25391600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:25388400-25392800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:25388400-25395800	Weak transcription	Primary T cells from cord blood	blood
18	chr6:25388400-25396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:25388400-25396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:25388600-25389800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:25388800-25390200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:25388800-25390400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:25389000-25390000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:25389000-25390400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:25389000-25391000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:25389200-25389800	Enhancers	Left Ventricle	heart
27	chr6:25389200-25390400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:25389200-25390400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:25389200-25390400	Enhancers	HMEC	breast
30	chr6:25389200-25390400	Enhancers	NHDF-Ad	bronchial
31	chr6:25389200-25390800	Enhancers	Aorta	Aorta
32	chr6:25389200-25392800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:25389400-25389800	Flanking Active TSS	NHEK	skin
34	chr6:25389400-25390200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:25389400-25390200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:25389400-25390400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:25389400-25390400	Enhancers	HUVEC	blood vessel
38	chr6:25389400-25390400	Enhancers	Osteobl	bone
39	chr6:25389400-25397400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:25389400-25403600	Weak transcription	Thymus	Thymus
41	chr6:25389600-25390000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:25389600-25390200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:25389600-25390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:25389600-25390200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:25389600-25390200	Enhancers	Brain Germinal Matrix	brain
46	chr6:25389600-25390200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:25389600-25390200	Enhancers	HSMM	muscle
48	chr6:25389600-25390200	Enhancers	NH-A	brain
49	chr6:25389600-25390200	Enhancers	NHLF	lung
50	chr6:25389600-25390400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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