Variant report

Variant	esv3422617
Chromosome Location	chr7:5486026-5488174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5463779..5472786-chr7:5487740..5494468,14	MCF-7	breast:
2	chr7:5480168..5484767-chr7:5488147..5491979,5	MCF-7	breast:
3	chr7:5479996..5482782-chr7:5485785..5488364,2	K562	blood:
4	chr7:5468284..5470314-chr7:5485868..5487701,2	K562	blood:
5	chr7:5479084..5483250-chr7:5483543..5487285,4	K562	blood:
6	chr7:5481781..5483305-chr7:5487819..5490251,2	MCF-7	breast:
7	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:
8	chr7:5464891..5467567-chr7:5488157..5489750,2	K562	blood:
9	chr7:5460548..5470879-chr7:5485628..5502297,36	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272953	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000234432	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546557721	chr7:5486029-5486030	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs62440960	chr7:5486032-5486033	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4724684	chr7:5486041-5486042	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117418571	chr7:5486051-5486052	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs569424694	chr7:5486058-5486059	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs4236391	chr7:5486082-5486083	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567223553	chr7:5486124-5486125	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs534715159	chr7:5486163-5486164	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs184227541	chr7:5486192-5486193	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577759009	chr7:5486218-5486219	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs147259264	chr7:5486220-5486221	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs557006592	chr7:5486241-5486242	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs142683673	chr7:5486297-5486298	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs539452618	chr7:5486302-5486303	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs140826441	chr7:5486339-5486340	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs542427560	chr7:5486355-5486356	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs13223393	chr7:5486356-5486357	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528526422	chr7:5486397-5486398	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs540334931	chr7:5486398-5486399	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564936522	chr7:5486536-5486537	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs11767907	chr7:5486617-5486618	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551241532	chr7:5486662-5486663	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs569478949	chr7:5486711-5486712	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369142801	chr7:5486741-5486742	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs530447153	chr7:5486816-5486817	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs144371951	chr7:5486841-5486842	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs11982854	chr7:5486863-5486864	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116659942	chr7:5486896-5486897	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs11982148	chr7:5486900-5486901	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372762192	chr7:5486916-5486917	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs374559320	chr7:5486934-5486935	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs11978624	chr7:5486964-5486965	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538284044	chr7:5486969-5486970	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558791059	chr7:5486991-5486992	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs368738867	chr7:5487002-5487003	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs11971685	chr7:5487028-5487029	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs575413501	chr7:5487072-5487073	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs73059768	chr7:5487109-5487110	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554422549	chr7:5487122-5487123	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs575516070	chr7:5487156-5487157	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs74603345	chr7:5487159-5487160	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs112158858	chr7:5487160-5487161	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201456561	chr7:5487161-5487162	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs374697096	chr7:5487163-5487164	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs113725686	chr7:5487164-5487165	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572748749	chr7:5487167-5487168	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs112293214	chr7:5487168-5487169	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192230616	chr7:5487179-5487180	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs546486182	chr7:5487189-5487190	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565075475	chr7:5487190-5487191	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
3	chr7:5470600-5488000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5471600-5487400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:5473200-5486400	Weak transcription	Primary T cells from cord blood	blood
6	chr7:5473200-5491200	Weak transcription	Hela-S3	cervix
7	chr7:5473200-5497200	Weak transcription	Right Ventricle	heart
8	chr7:5477600-5487600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:5477600-5488000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:5477800-5487600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:5479600-5488000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:5479800-5487600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:5480000-5490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:5481800-5487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:5481800-5488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:5483400-5490000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:5483600-5487800	Weak transcription	Fetal Brain Female	brain
18	chr7:5483600-5489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:5483800-5487600	Weak transcription	Esophagus	oesophagus
20	chr7:5483800-5488000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:5483800-5488200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:5483800-5490800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:5484000-5490200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:5484000-5491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:5484200-5488000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:5484200-5488000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:5485600-5486200	Enhancers	Fetal Brain Male	brain
28	chr7:5485600-5486400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:5485600-5486400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:5485600-5486400	Enhancers	Fetal Stomach	stomach
31	chr7:5485600-5486600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:5485600-5486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:5485600-5486600	Enhancers	Fetal Intestine Small	intestine
34	chr7:5485600-5486600	Enhancers	Lung	lung
35	chr7:5485600-5486600	Enhancers	Ovary	ovary
36	chr7:5485600-5486600	Enhancers	Pancreas	Pancrea
37	chr7:5485600-5486800	Flanking Active TSS	HepG2	liver
38	chr7:5485600-5489400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:5485800-5486200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:5485800-5486200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:5485800-5486200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:5485800-5486400	Enhancers	Fetal Lung	lung
43	chr7:5485800-5486600	Enhancers	Fetal Intestine Large	intestine
44	chr7:5485800-5486600	Enhancers	Fetal Muscle Leg	muscle
45	chr7:5485800-5486600	Enhancers	Fetal Thymus	thymus
46	chr7:5485800-5486600	Enhancers	Spleen	Spleen
47	chr7:5485800-5486800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:5485800-5486800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:5485800-5486800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:5485800-5486800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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