Variant report

Variant	esv3376390
Chromosome Location	chr5:1666377-1669125
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	chr5:1667086..1668362-chr5:2038669..2039410,3	MCF-7	breast:
2	chr5:1667058..1667975-chr5:2038421..2039188,3	K562	blood:
3	chr5:1667066..1668003-chr5:1750732..1751621,2	MCF-7	breast:
4	chr5:1667002..1669598-chr5:1799567..1801652,2	K562	blood:
5	chr5:1667067..1667875-chr5:1737581..1738505,2	MCF-7	breast:
6	chr5:1667410..1667946-chr5:1763618..1764383,2	MCF-7	breast:
7	chr5:1668302..1672131-chr5:1798623..1801644,4	MCF-7	breast:
8	chr5:1667119..1667843-chr5:1772505..1773334,2	MCF-7	breast:
9	chr5:1665325..1667102-chr5:1669909..1672808,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369875586	chr5:1666382-1666383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72719251	chr5:1666389-1666390	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541940594	chr5:1666411-1666412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563728423	chr5:1666414-1666415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530782418	chr5:1666466-1666467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4975683	chr5:1666529-1666530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185427889	chr5:1666587-1666588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199832184	chr5:1666592-1666593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373937208	chr5:1666604-1666605	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372627010	chr5:1666609-1666610	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532444611	chr5:1666618-1666619	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375909813	chr5:1666642-1666643	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs527992905	chr5:1666658-1666659	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62336895	chr5:1666674-1666675	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs149722404	chr5:1666687-1666688	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567592159	chr5:1666701-1666702	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190286754	chr5:1666736-1666737	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569647364	chr5:1666738-1666739	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72719252	chr5:1666769-1666770	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369623829	chr5:1666802-1666803	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs376875883	chr5:1666814-1666815	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs558824931	chr5:1666816-1666817	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs200496694	chr5:1666842-1666843	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs577167446	chr5:1666852-1666853	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs534979956	chr5:1666868-1666869	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs181382131	chr5:1666877-1666878	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs145600951	chr5:1666889-1666890	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs542332818	chr5:1666924-1666925	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs563598603	chr5:1666938-1666939	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs575603830	chr5:1666939-1666940	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs546172241	chr5:1667101-1667102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564463460	chr5:1667103-1667104	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62336896	chr5:1667133-1667134	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572619871	chr5:1667173-1667174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77135711	chr5:1667202-1667203	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
36	rs113688221	chr5:1667235-1667236	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs13156661	chr5:1667262-1667263	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148488050	chr5:1667265-1667266	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374759961	chr5:1667289-1667290	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538432125	chr5:1667344-1667345	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75678805	chr5:1667367-1667368	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
42	rs112011797	chr5:1667374-1667375	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs371701519	chr5:1667384-1667385	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190268789	chr5:1667389-1667390	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181144567	chr5:1667397-1667398	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146551796	chr5:1667408-1667409	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112426076	chr5:1667421-1667422	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374282630	chr5:1667436-1667437	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186201650	chr5:1667441-1667442	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373940798	chr5:1667660-1667661	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1663400-1666600	Weak transcription	Right Atrium	heart
2	chr5:1663400-1667000	Weak transcription	Gastric	stomach
3	chr5:1665200-1666800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1666600-1667000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:1666600-1667400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr5:1666600-1667800	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr5:1666600-1668000	Active TSS	Right Atrium	heart
8	chr5:1666800-1667000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr5:1666800-1667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:1666800-1667000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:1666800-1667000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr5:1666800-1667000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:1666800-1667000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:1666800-1667000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr5:1666800-1667000	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr5:1666800-1667000	Bivalent Enhancer	Brain Substantia Nigra	brain
17	chr5:1666800-1667000	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr5:1666800-1667000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr5:1666800-1667000	Bivalent Enhancer	Fetal Brain Female	brain
20	chr5:1666800-1667000	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr5:1666800-1667000	Flanking Bivalent TSS/Enh	A549	lung
22	chr5:1666800-1667000	Bivalent Enhancer	HepG2	liver
23	chr5:1666800-1667200	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr5:1666800-1667200	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr5:1666800-1667200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
26	chr5:1666800-1667200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:1666800-1667200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr5:1666800-1667200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
29	chr5:1666800-1667200	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr5:1666800-1667200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr5:1666800-1667200	Enhancers	Fetal Heart	heart
32	chr5:1666800-1667200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
33	chr5:1666800-1667600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr5:1666800-1667600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr5:1666800-1667600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr5:1666800-1667800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr5:1666800-1668200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:1666800-1668200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr5:1666800-1668400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr5:1666800-1668400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:1666800-1668400	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr5:1667000-1667200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:1667000-1667200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:1667000-1667200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:1667000-1667200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:1667000-1667200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:1667000-1667200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:1667000-1667200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:1667000-1667200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr5:1667000-1667200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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