Variant report

Variant	esv3355154
Chromosome Location	chr6:142278308-142305393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
2	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
3	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
4	chr19:38893517..38894326-chr6:142280626..142281137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130244	chromatin interactions

Extended variants
information (count: 717 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:717 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555277988	chr6:142278348-142278349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573577672	chr6:142278438-142278439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77706013	chr6:142278461-142278462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72555633	chr6:142278495-142278496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6915932	chr6:142278496-142278497	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372149442	chr6:142278497-142278498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533059764	chr6:142278516-142278517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1006256	chr6:142278541-142278542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560118163	chr6:142278560-142278561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187742145	chr6:142278561-142278562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192756077	chr6:142278564-142278565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548982378	chr6:142278612-142278613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567985627	chr6:142278622-142278623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532037634	chr6:142278643-142278644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531795413	chr6:142278662-142278663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182494163	chr6:142278669-142278670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188409056	chr6:142278680-142278681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1006257	chr6:142278682-142278683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs116927078	chr6:142278707-142278708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566150248	chr6:142278726-142278727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192686927	chr6:142278746-142278747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113838388	chr6:142278757-142278758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554541502	chr6:142278768-142278769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573638470	chr6:142278779-142278780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544063737	chr6:142278804-142278805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370194328	chr6:142278827-142278828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9376662	chr6:142278837-142278838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2784947	chr6:142278857-142278858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566474554	chr6:142278919-142278920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114253934	chr6:142278977-142278978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535771202	chr6:142279011-142279012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115353327	chr6:142279103-142279104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527356554	chr6:142279106-142279107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542688333	chr6:142279159-142279160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1336261	chr6:142279210-142279211	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77064598	chr6:142279218-142279219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532053078	chr6:142279234-142279235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550448794	chr6:142279299-142279300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571831925	chr6:142279301-142279302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543423310	chr6:142279311-142279312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532631339	chr6:142279387-142279388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547949534	chr6:142279461-142279462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368184179	chr6:142279474-142279475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1336260	chr6:142279475-142279476	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374549519	chr6:142279520-142279521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372126458	chr6:142279531-142279532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554556017	chr6:142279627-142279628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569670846	chr6:142279656-142279657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3893134	chr6:142279673-142279674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368832541	chr6:142279691-142279692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142274800-142284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:142276600-142279000	Enhancers	Aorta	Aorta
3	chr6:142276800-142278600	Enhancers	Liver	Liver
4	chr6:142277200-142278400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:142277200-142278600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:142277200-142279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:142277400-142278400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:142277400-142278400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:142277400-142278400	Enhancers	Osteobl	bone
10	chr6:142277600-142279400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:142278000-142278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:142278000-142279000	Weak transcription	NHDF-Ad	bronchial
13	chr6:142278400-142278600	Enhancers	NHLF	lung
14	chr6:142278400-142279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:142279000-142279200	Enhancers	NHDF-Ad	bronchial
16	chr6:142284000-142284400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:142284000-142286800	Enhancers	Placenta	Placenta
18	chr6:142284400-142287600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:142284400-142292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:142285200-142285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:142285800-142286000	Enhancers	HSMMtube	muscle
22	chr6:142285800-142287400	Enhancers	Fetal Heart	heart
23	chr6:142286600-142286800	Enhancers	HSMMtube	muscle
24	chr6:142287400-142289800	Weak transcription	Fetal Heart	heart
25	chr6:142289400-142289600	Enhancers	Liver	Liver
26	chr6:142289600-142290600	Flanking Active TSS	Liver	Liver
27	chr6:142289800-142290400	Enhancers	Fetal Heart	heart
28	chr6:142290200-142290400	Enhancers	Hela-S3	cervix
29	chr6:142290400-142291200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:142290400-142291200	Active TSS	Hela-S3	cervix
31	chr6:142290600-142290800	Enhancers	Liver	Liver
32	chr6:142290800-142291000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:142290800-142291200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr6:142291600-142291800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:142301800-142302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:142302400-142302600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:142302600-142302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:142302600-142302800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr6:142302600-142304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:142302800-142310600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:142304600-142304800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:142304800-142305000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:142304800-142306200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr6:142304800-142316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:142305000-142305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:142305000-142306000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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