Variant report

Variant	esv2566421
Chromosome Location	chr6:149903988-149905566
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	chr6:149886275..149889014-chr6:149903385..149907051,3	MCF-7	breast:
2	chr6:149902583..149905238-chr6:149907236..149909070,2	K562	blood:

Variant related genes	Relation type
ENSG00000055211	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186080927	chr6:149904048-149904049	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546568085	chr6:149904049-149904050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560247760	chr6:149904069-149904070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367644894	chr6:149904085-149904086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112225358	chr6:149904094-149904095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201596713	chr6:149904112-149904113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113281694	chr6:149904113-149904114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77067873	chr6:149904114-149904115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs66839493	chr6:149904115-149904116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs58569231	chr6:149904116-149904117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34705048	chr6:149904155-149904156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529319634	chr6:149904190-149904191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549169023	chr6:149904245-149904246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190019281	chr6:149904294-149904295	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9498374	chr6:149904308-149904309	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531801402	chr6:149904366-149904367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557824471	chr6:149904367-149904368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552096569	chr6:149904372-149904373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182336300	chr6:149904432-149904433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533801967	chr6:149904439-149904440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56859590	chr6:149904462-149904463	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149610860	chr6:149904472-149904473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144320342	chr6:149904476-149904477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556096555	chr6:149904584-149904585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76883751	chr6:149904610-149904611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57147180	chr6:149904641-149904642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552999988	chr6:149904657-149904658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558842013	chr6:149904677-149904678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186998938	chr6:149904680-149904681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140088766	chr6:149904682-149904683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560068754	chr6:149904702-149904703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143651905	chr6:149904711-149904712	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543147044	chr6:149904722-149904723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191846318	chr6:149904739-149904740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76659015	chr6:149904746-149904747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112596826	chr6:149904764-149904765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369020797	chr6:149904834-149904835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75782013	chr6:149904852-149904853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75425441	chr6:149904863-149904864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9689579	chr6:149905027-149905028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200659110	chr6:149905050-149905051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550060410	chr6:149905069-149905070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188501915	chr6:149905094-149905095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567232869	chr6:149905109-149905110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536246647	chr6:149905114-149905115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556272025	chr6:149905119-149905120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139512290	chr6:149905182-149905183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538861309	chr6:149905208-149905209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558434450	chr6:149905261-149905262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572010964	chr6:149905313-149905314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149888400-149911600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:149888600-149905200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:149888600-149907600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:149888600-149909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:149888600-149912800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:149888600-149922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:149888800-149904800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:149888800-149914800	Weak transcription	A549	lung
9	chr6:149889000-149905400	Weak transcription	HSMMtube	muscle
10	chr6:149889000-149908400	Weak transcription	Pancreas	Pancrea
11	chr6:149889000-149928000	Weak transcription	Stomach Mucosa	stomach
12	chr6:149889200-149919600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:149889400-149911800	Weak transcription	Psoas Muscle	Psoas
14	chr6:149889400-149924200	Weak transcription	Fetal Heart	heart
15	chr6:149889600-149914200	Weak transcription	Hela-S3	cervix
16	chr6:149889600-149931400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:149891200-149911200	Weak transcription	Small Intestine	intestine
18	chr6:149893800-149926600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:149894200-149920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:149895600-149923200	Strong transcription	Dnd41	blood
21	chr6:149895800-149904000	Strong transcription	GM12878-XiMat	blood
22	chr6:149896800-149904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:149897200-149909400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:149897400-149909000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:149897600-149906800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:149897600-149908000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:149898400-149919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:149898600-149908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:149898600-149908400	Weak transcription	Spleen	Spleen
30	chr6:149898600-149927400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:149898800-149906600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:149898800-149907200	Weak transcription	Thymus	Thymus
33	chr6:149898800-149913800	Weak transcription	Right Ventricle	heart
34	chr6:149899000-149904400	Weak transcription	Lung	lung
35	chr6:149899000-149905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:149899200-149915000	Weak transcription	Esophagus	oesophagus
37	chr6:149899200-149929800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:149899400-149907400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:149900200-149926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:149900400-149910000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:149900400-149923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:149900800-149904200	Strong transcription	Primary T cells from cord blood	blood
43	chr6:149901000-149904400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:149901000-149905600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:149901000-149909800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:149901000-149910000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:149901000-149913200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:149901000-149919200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:149901000-149920200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:149901000-149923200	Strong transcription	Primary T cells fromperipheralblood	blood

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