Variant report

Variant	esv1837668
Chromosome Location	chr6:65860539-65910678
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	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
2	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:

Extended variants
information (count: 887 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11962884	chr6:65860539-65860540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs36147592	chr6:65860570-65860571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36138380	chr6:65860571-65860572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35216414	chr6:65860604-65860605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66687691	chr6:65860605-65860606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397765257	chr6:65860608-65860609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62407230	chr6:65860610-65860611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568732587	chr6:65860661-65860662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191073648	chr6:65860724-65860725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1321932	chr6:65860730-65860731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567164697	chr6:65860760-65860761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536277619	chr6:65860816-65860817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556173797	chr6:65860928-65860929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538900668	chr6:65861002-65861003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1853165	chr6:65861007-65861008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182118407	chr6:65861040-65861041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202210398	chr6:65861047-65861048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545112479	chr6:65861057-65861058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566148312	chr6:65861110-65861111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7738259	chr6:65861147-65861148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7775478	chr6:65861193-65861194	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148082638	chr6:65861201-65861202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540987098	chr6:65861212-65861213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561272274	chr6:65861219-65861220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77338998	chr6:65861231-65861232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143860473	chr6:65861234-65861235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563335982	chr6:65861235-65861236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147217378	chr6:65861244-65861245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80186676	chr6:65861273-65861274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565956882	chr6:65861291-65861292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528652062	chr6:65861346-65861347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9784826	chr6:65861347-65861348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186766196	chr6:65861401-65861402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58503039	chr6:65861415-65861416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138969187	chr6:65861436-65861437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537449821	chr6:65861500-65861501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191530787	chr6:65861556-65861557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142900770	chr6:65861573-65861574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7758752	chr6:65861576-65861577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558654947	chr6:65861634-65861635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375081714	chr6:65861689-65861690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183349431	chr6:65861693-65861694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9453207	chr6:65861774-65861775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12189991	chr6:65861800-65861801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369656105	chr6:65861832-65861833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34948358	chr6:65861844-65861845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16896369	chr6:65861884-65861885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188221198	chr6:65861888-65861889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534264243	chr6:65861892-65861893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57499395	chr6:65861935-65861936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
3	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
7	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
8	chr6:65871600-65872200	Enhancers	HepG2	liver
9	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
10	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
11	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
12	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain
13	chr6:65887800-65888200	Active TSS	Aorta	Aorta
14	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
21	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:65901400-65901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:65901800-65905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
33	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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