Variant report

Variant	esv3390247
Chromosome Location	chr6:1679592-1679956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1640825..1645110-chr6:1678460..1681234,5	MCF-7	breast:
2	chr6:1641340..1642322-chr6:1679602..1680506,3	MCF-7	breast:
3	chr6:1670342..1674168-chr6:1677426..1680417,3	MCF-7	breast:
4	chr6:1641575..1642150-chr6:1679764..1680527,2	MCF-7	breast:
5	chr6:1609163..1611632-chr6:1678623..1681633,3	MCF-7	breast:
6	chr6:1609862..1613098-chr6:1679340..1682407,4	MCF-7	breast:
7	chr6:1615844..1618039-chr6:1678564..1681319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28639897	chr6:1679594-1679595	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72838838	chr6:1679598-1679599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565852182	chr6:1679621-1679622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2814815	chr6:1679651-1679652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369809288	chr6:1679658-1679659	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577808855	chr6:1679688-1679689	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575642658	chr6:1679692-1679693	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1962133	chr6:1679715-1679716	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9502999	chr6:1679717-1679718	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574277109	chr6:1679737-1679738	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181728177	chr6:1679745-1679746	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559711308	chr6:1679760-1679761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573062574	chr6:1679776-1679777	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114256511	chr6:1679808-1679809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565087263	chr6:1679810-1679811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530905410	chr6:1679811-1679812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75958795	chr6:1679825-1679826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71550082	chr6:1679875-1679876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529197269	chr6:1679876-1679877	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568911675	chr6:1679888-1679889	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556952968	chr6:1679912-1679913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1633000-1679800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:1667800-1687800	Weak transcription	Fetal Intestine Small	intestine
3	chr6:1671400-1679600	Weak transcription	HepG2	liver
4	chr6:1671600-1679600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:1672600-1680400	Weak transcription	Fetal Thymus	thymus
6	chr6:1674000-1679800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:1677800-1686200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:1678200-1681200	Enhancers	Fetal Muscle Leg	muscle
9	chr6:1678400-1679600	Enhancers	Fetal Stomach	stomach
10	chr6:1678400-1679800	Enhancers	Aorta	Aorta
11	chr6:1678400-1680000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:1678400-1680000	Enhancers	Pancreas	Pancrea
13	chr6:1678400-1680000	Enhancers	Psoas Muscle	Psoas
14	chr6:1678400-1680400	Enhancers	HSMMtube	muscle
15	chr6:1678400-1681000	Enhancers	Left Ventricle	heart
16	chr6:1678400-1682800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:1678600-1679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:1678600-1679800	Enhancers	Lung	lung
19	chr6:1678600-1679800	Enhancers	Right Atrium	heart
20	chr6:1678600-1680000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:1678600-1680000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:1678600-1680000	Enhancers	Fetal Brain Female	brain
23	chr6:1678600-1680600	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:1678600-1680800	Enhancers	Right Ventricle	heart
25	chr6:1678600-1680800	Enhancers	Stomach Mucosa	stomach
26	chr6:1678600-1681000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:1678800-1680000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:1678800-1680600	Weak transcription	Esophagus	oesophagus
29	chr6:1678800-1680600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:1678800-1688000	Weak transcription	Spleen	Spleen
31	chr6:1679000-1679800	Enhancers	Colon Smooth Muscle	Colon
32	chr6:1679200-1679600	Flanking Active TSS	Fetal Heart	heart
33	chr6:1679200-1679600	Enhancers	Fetal Kidney	kidney
34	chr6:1679200-1679600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:1679200-1679800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:1679200-1680000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:1679200-1680000	Enhancers	Fetal Lung	lung
38	chr6:1679200-1680000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:1679200-1680200	Enhancers	HSMM	muscle
40	chr6:1679200-1680400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:1679400-1679600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr6:1679400-1679800	Enhancers	Gastric	stomach
43	chr6:1679400-1680200	Enhancers	Osteobl	bone
44	chr6:1679400-1693600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:1679600-1679800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:1679600-1680400	Enhancers	HMEC	breast
47	chr6:1679600-1681400	Enhancers	HepG2	liver
48	chr6:1679600-1681600	Enhancers	Fetal Heart	heart
49	chr6:1679600-1695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum

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