Variant report

Variant	esv3416566
Chromosome Location	chr6:120256302-120278802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574511227	chr6:120256303-120256304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527533337	chr6:120256345-120256346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537011646	chr6:120256381-120256382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557264627	chr6:120256413-120256414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17637543	chr6:120256432-120256433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75501894	chr6:120256437-120256438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185219653	chr6:120256469-120256470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375629433	chr6:120256471-120256472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13213255	chr6:120256548-120256549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62424108	chr6:120256592-120256593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192381171	chr6:120260216-120260217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574851853	chr6:120260248-120260249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538144835	chr6:120260249-120260250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557738157	chr6:120260276-120260277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377287310	chr6:120260332-120260333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67620102	chr6:120260342-120260343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566197000	chr6:120260349-120260350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560598785	chr6:120260417-120260418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373675763	chr6:120260465-120260466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184362310	chr6:120260582-120260583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368158774	chr6:120262100-120262101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs961104	chr6:120262161-120262162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139148012	chr6:120262171-120262172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76578117	chr6:120262223-120262224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574724989	chr6:120262246-120262247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77958526	chr6:120262272-120262273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1319090	chr6:120262304-120262305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs6927106	chr6:120262332-120262333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571171957	chr6:120263446-120263447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190134909	chr6:120263448-120263449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149320275	chr6:120263492-120263493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543687374	chr6:120263503-120263504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114247708	chr6:120263522-120263523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552422682	chr6:120263523-120263524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183090301	chr6:120263576-120263577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144639888	chr6:120263694-120263695	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554531492	chr6:120263703-120263704	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187355334	chr6:120263730-120263731	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537354354	chr6:120263754-120263755	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148402223	chr6:120263781-120263782	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577383636	chr6:120263803-120263804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144011034	chr6:120263828-120263829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146441658	chr6:120263831-120263832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572169715	chr6:120263836-120263837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541167918	chr6:120263837-120263838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559499342	chr6:120263848-120263849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201213888	chr6:120263861-120263862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541069593	chr6:120263886-120263887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560869049	chr6:120263891-120263892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78309320	chr6:120263946-120263947	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120256200-120256600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr6:120260200-120260600	Enhancers	Primary B cells from cord blood	blood
3	chr6:120260200-120260600	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:120262000-120262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:120263400-120263600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:120263400-120264000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:120263600-120263800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:120271600-120272800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:120271600-120273000	Enhancers	Hela-S3	cervix
10	chr6:120278200-120278600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:120278200-120278800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:120278200-120278800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:120278200-120278800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:120278200-120278800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:120278200-120279000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:120278200-120279000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:120278200-120279000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:120278200-120279000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:120278200-120279000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:120278200-120279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:120278200-120279200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:120278200-120279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:120278400-120278800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:120278400-120278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:120278400-120278800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:120278400-120278800	Active TSS	Spleen	Spleen
27	chr6:120278400-120279000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:120278400-120279000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:120278400-120279200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:120278600-120278800	Enhancers	Gastric	stomach
31	chr6:120278600-120279000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:120278800-120281200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:120278800-120281200	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links