Variant report

Variant	esv3394385
Chromosome Location	chr6:142661709-142663807
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	chr6:142649012..142650608-chr6:142659636..142662269,2	K562	blood:
2	chr6:142662353..142664564-chr6:142664981..142667307,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572452076	chr6:142661798-142661799	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535823118	chr6:142661804-142661805	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79235349	chr6:142661824-142661825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200817106	chr6:142661838-142661839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143199767	chr6:142661866-142661867	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543508117	chr6:142661873-142661874	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181201557	chr6:142661966-142661967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543307482	chr6:142661991-142661992	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576959485	chr6:142662090-142662091	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563537080	chr6:142662229-142662230	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138519463	chr6:142662237-142662238	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368820822	chr6:142662255-142662256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559666001	chr6:142662278-142662279	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532168276	chr6:142662317-142662318	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530053963	chr6:142662388-142662389	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75638455	chr6:142662393-142662394	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561285541	chr6:142662397-142662398	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531659976	chr6:142662407-142662408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550256321	chr6:142662477-142662478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571830704	chr6:142662526-142662527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369156343	chr6:142662546-142662547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571688891	chr6:142662551-142662552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532735717	chr6:142662568-142662569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568849175	chr6:142662577-142662578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34215372	chr6:142662587-142662588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374822439	chr6:142662595-142662596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35229747	chr6:142662596-142662597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566778198	chr6:142662605-142662606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547611961	chr6:142662637-142662638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566016826	chr6:142662652-142662653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184272827	chr6:142662698-142662699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576581622	chr6:142662702-142662703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575631097	chr6:142662721-142662722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573590081	chr6:142662727-142662728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532794491	chr6:142662730-142662731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569643399	chr6:142662750-142662751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536689045	chr6:142662754-142662755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529723017	chr6:142662766-142662767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558618792	chr6:142662779-142662780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188174382	chr6:142662781-142662782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541207023	chr6:142662823-142662824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141571417	chr6:142662866-142662867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574759913	chr6:142662891-142662892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542146211	chr6:142662962-142662963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550871584	chr6:142663026-142663027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531720833	chr6:142663127-142663128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543496715	chr6:142663170-142663171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1342060	chr6:142663177-142663178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532532325	chr6:142663298-142663299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547549970	chr6:142663301-142663302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142654200-142666400	Weak transcription	HMEC	breast
2	chr6:142654200-142668800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:142654400-142666200	Weak transcription	NHEK	skin
4	chr6:142654800-142676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:142657400-142678800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:142657600-142665800	Weak transcription	NHLF	lung
7	chr6:142659000-142666000	Weak transcription	Liver	Liver
8	chr6:142660000-142662200	Enhancers	A549	lung
9	chr6:142660400-142662200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:142660400-142662200	Enhancers	Fetal Lung	lung
11	chr6:142660600-142662000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:142660600-142662400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:142660800-142662200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:142660800-142662400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:142661000-142662000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:142661000-142662000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:142661400-142662200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:142661600-142661800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:142661600-142661800	Genic enhancers	HepG2	liver
20	chr6:142661800-142662600	Strong transcription	HepG2	liver
21	chr6:142662200-142663200	Weak transcription	Fetal Lung	lung
22	chr6:142662200-142663600	Weak transcription	A549	lung
23	chr6:142662400-142665800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:142662600-142662800	Weak transcription	HepG2	liver
25	chr6:142662800-142663400	Strong transcription	HepG2	liver
26	chr6:142663000-142663200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:142663200-142663400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:142663200-142663800	Enhancers	Fetal Lung	lung
29	chr6:142663200-142665600	Enhancers	HUVEC	blood vessel
30	chr6:142663400-142664800	Weak transcription	HepG2	liver
31	chr6:142663400-142676400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:142663600-142663800	Enhancers	A549	lung
33	chr6:142663800-142664800	Weak transcription	Fetal Lung	lung
34	chr6:142663800-142665000	Weak transcription	A549	lung

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