Variant report

Variant	esv3439835
Chromosome Location	chr6:151027582-151036981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:151029067..151031162-chr6:151034859..151036741,2	MCF-7	breast:
2	chr6:151031833..151034692-chr6:151036440..151039323,2	MCF-7	breast:
3	chr6:151031833..151034692-chr6:151036440..151039323,2	MCF-7	breast:
4	chr6:151032065..151034026-chr6:151038847..151040382,2	K562	blood:
5	chr6:151029067..151031162-chr6:151034859..151036741,2	MCF-7	breast:

Extended variants
information (count: 352 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7742639	chr6:151027586-151027587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113653312	chr6:151027612-151027613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571251728	chr6:151027630-151027631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75127669	chr6:151027636-151027637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147723959	chr6:151027643-151027644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569644927	chr6:151027676-151027677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567375111	chr6:151027729-151027730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535638831	chr6:151027737-151027738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs33992485	chr6:151027749-151027750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540619651	chr6:151027760-151027761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397718682	chr6:151027761-151027762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61315026	chr6:151027762-151027763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538078820	chr6:151027769-151027770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555123685	chr6:151027792-151027793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180875051	chr6:151027982-151027983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373417745	chr6:151028018-151028019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570167645	chr6:151028025-151028026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200044126	chr6:151028108-151028109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200683289	chr6:151028113-151028114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373460330	chr6:151028117-151028118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530772473	chr6:151028118-151028119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397963109	chr6:151028121-151028122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13201159	chr6:151028122-151028123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376377068	chr6:151028128-151028129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528573339	chr6:151028134-151028135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71014517	chr6:151028144-151028145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398003060	chr6:151028154-151028155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376553833	chr6:151028162-151028163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575024160	chr6:151028201-151028202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552740708	chr6:151028209-151028210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71570233	chr6:151028214-151028215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538146356	chr6:151028225-151028226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71554477	chr6:151028226-151028227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185813981	chr6:151028231-151028232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577943959	chr6:151028242-151028243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149211633	chr6:151028265-151028266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143396765	chr6:151028266-151028267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370610882	chr6:151028271-151028272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574097224	chr6:151028289-151028290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190186506	chr6:151028329-151028330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183088955	chr6:151028347-151028348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531574709	chr6:151028391-151028392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551683227	chr6:151028418-151028419	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565203930	chr6:151028467-151028468	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4869689	chr6:151028499-151028500	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4242272	chr6:151028549-151028550	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575464602	chr6:151028602-151028603	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80353867	chr6:151028617-151028618	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549512028	chr6:151028618-151028619	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569100081	chr6:151028646-151028647	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151015200-151033200	Weak transcription	Right Atrium	heart
2	chr6:151017600-151029200	Weak transcription	Lung	lung
3	chr6:151018800-151028600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:151019000-151033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:151019000-151033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:151019000-151035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:151021400-151029000	Weak transcription	Left Ventricle	heart
8	chr6:151021600-151033000	Weak transcription	Fetal Stomach	stomach
9	chr6:151021600-151040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:151024000-151027600	Enhancers	Placenta	Placenta
11	chr6:151024200-151028600	Weak transcription	Small Intestine	intestine
12	chr6:151024200-151034200	Weak transcription	Right Ventricle	heart
13	chr6:151024400-151028800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:151024400-151032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:151025400-151027800	Enhancers	Thymus	Thymus
16	chr6:151025400-151029000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:151025400-151029000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:151025600-151027600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:151025600-151028000	Enhancers	Fetal Thymus	thymus
20	chr6:151025600-151033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:151025800-151031400	Weak transcription	Esophagus	oesophagus
22	chr6:151026000-151028600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:151026000-151029000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:151026000-151030800	Weak transcription	Stomach Mucosa	stomach
25	chr6:151026000-151033600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:151026200-151031200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:151026400-151031000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:151026800-151028600	Weak transcription	Spleen	Spleen
29	chr6:151026800-151029000	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:151026800-151033200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:151026800-151043600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:151027000-151027800	Weak transcription	Primary B cells from cord blood	blood
33	chr6:151027000-151028600	Weak transcription	Fetal Lung	lung
34	chr6:151027000-151033200	Weak transcription	Fetal Intestine Small	intestine
35	chr6:151027200-151033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:151027400-151027800	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:151027400-151033200	Weak transcription	Fetal Kidney	kidney
38	chr6:151027600-151028600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:151027600-151028600	Weak transcription	Placenta	Placenta
40	chr6:151027800-151028400	Enhancers	Primary B cells from cord blood	blood
41	chr6:151027800-151028600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:151027800-151028600	Weak transcription	Thymus	Thymus
43	chr6:151028000-151028400	Weak transcription	Fetal Thymus	thymus
44	chr6:151028400-151029400	Enhancers	Fetal Thymus	thymus
45	chr6:151028400-151029800	Genic enhancers	Primary B cells from cord blood	blood
46	chr6:151028600-151029000	Enhancers	Primary B cells from peripheral blood	blood
47	chr6:151028600-151029000	Enhancers	Small Intestine	intestine
48	chr6:151028600-151029200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:151028600-151029200	Enhancers	Fetal Lung	lung
50	chr6:151028600-151029200	Strong transcription	Thymus	Thymus

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