Variant report

Variant	esv3392208
Chromosome Location	chr6:1682053-1684101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1605266..1613695-chr6:1683912..1689235,13	MCF-7	breast:
2	chr6:1646158..1647833-chr6:1681019..1683141,2	MCF-7	breast:
3	chr6:1609862..1613098-chr6:1679340..1682407,4	MCF-7	breast:
4	chr6:1650312..1652659-chr6:1683276..1685859,2	MCF-7	breast:
5	chr6:1638763..1640765-chr6:1680468..1682167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9503001	chr6:1682069-1682070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116091718	chr6:1682077-1682078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548002218	chr6:1682089-1682090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147313838	chr6:1682090-1682091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539921066	chr6:1682112-1682113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528664216	chr6:1682137-1682138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556545848	chr6:1682138-1682139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6929974	chr6:1682181-1682182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568208442	chr6:1682194-1682195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538152856	chr6:1682208-1682209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554521022	chr6:1682209-1682210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574389595	chr6:1682218-1682219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533083176	chr6:1682227-1682228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78086184	chr6:1682228-1682229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79947537	chr6:1682256-1682257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559892598	chr6:1682286-1682287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533761703	chr6:1682304-1682305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544613357	chr6:1682315-1682316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576551201	chr6:1682375-1682376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545546893	chr6:1682465-1682466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9501759	chr6:1682466-1682467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531159009	chr6:1682494-1682495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139374797	chr6:1682496-1682497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193086933	chr6:1682506-1682507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2814818	chr6:1682567-1682568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6930694	chr6:1682588-1682589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142964924	chr6:1682656-1682657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571032544	chr6:1682676-1682677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9766727	chr6:1682704-1682705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549966815	chr6:1682735-1682736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545325810	chr6:1682777-1682778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570035956	chr6:1682859-1682860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113166715	chr6:1682864-1682865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112574533	chr6:1682889-1682890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113602141	chr6:1682905-1682906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112957880	chr6:1682929-1682930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111667893	chr6:1682958-1682959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112399862	chr6:1682970-1682971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71550083	chr6:1682989-1682990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112956140	chr6:1683014-1683015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139878234	chr6:1683102-1683103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7756485	chr6:1683192-1683193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555724724	chr6:1683205-1683206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565368868	chr6:1683210-1683211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369114221	chr6:1683221-1683222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533807603	chr6:1683235-1683236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115143286	chr6:1683239-1683240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542063571	chr6:1683240-1683241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72259015	chr6:1683253-1683254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111233052	chr6:1683262-1683263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1667800-1687800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:1677800-1686200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:1678400-1682800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:1678800-1688000	Weak transcription	Spleen	Spleen
5	chr6:1679400-1693600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:1679600-1695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:1679800-1685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:1679800-1685800	Weak transcription	Right Atrium	heart
10	chr6:1680000-1685400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:1680000-1685800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:1680200-1685600	Weak transcription	Osteobl	bone
13	chr6:1680400-1682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:1680400-1685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:1680400-1685800	Weak transcription	HMEC	breast
16	chr6:1680400-1685800	Weak transcription	HSMMtube	muscle
17	chr6:1680800-1685800	Weak transcription	Right Ventricle	heart
18	chr6:1680800-1685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:1680800-1685800	Weak transcription	NH-A	brain
20	chr6:1681000-1685800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:1681000-1685800	Weak transcription	Lung	lung
22	chr6:1681000-1685800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:1681400-1683800	Weak transcription	HepG2	liver
24	chr6:1681600-1685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:1681600-1685800	Weak transcription	Esophagus	oesophagus
26	chr6:1681600-1685800	Weak transcription	Fetal Heart	heart
27	chr6:1681600-1685800	Weak transcription	Left Ventricle	heart
28	chr6:1681600-1686200	Weak transcription	Gastric	stomach
29	chr6:1681600-1699200	Weak transcription	Pancreas	Pancrea
30	chr6:1681800-1685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:1682600-1682800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:1682800-1683200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:1682800-1685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:1683000-1698600	Weak transcription	Primary T cells from cord blood	blood
35	chr6:1683200-1683400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:1683400-1686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:1683800-1685000	Strong transcription	HepG2	liver

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