Variant report

Variant	esv3371022
Chromosome Location	chr5:1868052-1873250
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1796320..1803050-chr5:1863900..1869410,15	MCF-7	breast:
2	chr5:1799200..1802760-chr5:1865091..1870537,7	MCF-7	breast:
3	chr5:1870945..1873659-chr5:1908651..1910521,2	K562	blood:
4	chr5:1839864..1842006-chr5:1865990..1868599,2	MCF-7	breast:
5	chr5:1864379..1866882-chr5:1868462..1869991,2	MCF-7	breast:
6	chr5:1864844..1866657-chr5:1871422..1873236,2	MCF-7	breast:
7	chr5:1861297..1869696-chr5:1879554..1886808,27	MCF-7	breast:
8	chr5:1863691..1867065-chr5:1867845..1871510,7	MCF-7	breast:
9	chr5:1831073..1835336-chr5:1866302..1869597,4	MCF-7	breast:
10	chr5:1867399..1868193-chr5:1883268..1884191,2	MCF-7	breast:
11	chr5:1858296..1860407-chr5:1867907..1869801,2	K562	blood:
12	chr5:1798305..1801067-chr5:1869519..1871055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171421	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000249116	chromatin interactions
ENSG00000113430	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558295521	chr5:1868052-1868053	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs70957398	chr5:1868056-1868057	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs62335776	chr5:1868059-1868060	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184353672	chr5:1868229-1868230	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs540676149	chr5:1868261-1868262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs187700247	chr5:1868279-1868280	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs192270078	chr5:1868280-1868281	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs72366890	chr5:1868286-1868287	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs72115231	chr5:1868287-1868288	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542204630	chr5:1868293-1868294	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1689712	chr5:1868298-1868299	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185099656	chr5:1868326-1868327	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs73026202	chr5:1868345-1868346	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564624283	chr5:1868349-1868350	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373806006	chr5:1868351-1868352	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs555119464	chr5:1868435-1868436	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs547109659	chr5:1868499-1868500	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs367657008	chr5:1868514-1868515	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs568410531	chr5:1868522-1868523	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs142860072	chr5:1868524-1868525	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs548220240	chr5:1868549-1868550	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569946475	chr5:1868565-1868566	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs73028103	chr5:1868572-1868573	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558330504	chr5:1868580-1868581	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs570271849	chr5:1868589-1868590	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs534451427	chr5:1868640-1868641	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs553028744	chr5:1868656-1868657	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs114530160	chr5:1868664-1868665	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs189380670	chr5:1868675-1868676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs115131944	chr5:1868693-1868694	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs576012005	chr5:1868715-1868716	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs546478876	chr5:1868716-1868717	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564713647	chr5:1868738-1868739	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs6887855	chr5:1868743-1868744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73028105	chr5:1868786-1868787	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562198422	chr5:1868814-1868815	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs115766219	chr5:1868816-1868817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529927233	chr5:1868826-1868827	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs550972808	chr5:1868837-1868838	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs181704410	chr5:1868840-1868841	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs184397071	chr5:1868866-1868867	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs374803827	chr5:1868872-1868873	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530721252	chr5:1868891-1868892	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs552043490	chr5:1868895-1868896	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs570359305	chr5:1868934-1868935	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs548501153	chr5:1868949-1868950	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs188693226	chr5:1869000-1869001	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs552825401	chr5:1869016-1869017	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs373917191	chr5:1869017-1869018	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs535157623	chr5:1869035-1869036	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
3	chr5:1866000-1868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1867600-1868400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:1867600-1870000	Weak transcription	Pancreas	Pancrea
6	chr5:1868200-1868400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:1868200-1868600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:1868400-1868600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:1868400-1869000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:1868400-1869000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:1868600-1869400	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr5:1868600-1870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:1868800-1869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:1868800-1870000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr5:1869000-1869400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr5:1869000-1870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:1869200-1870400	Enhancers	Fetal Heart	heart
18	chr5:1870000-1870600	ZNF genes & repeats	Pancreas	Pancrea
19	chr5:1870000-1870800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:1870000-1871400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:1870200-1870600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:1870200-1870600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:1870200-1870800	ZNF genes & repeats	Spleen	Spleen
24	chr5:1870200-1871000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:1870400-1871200	Enhancers	Gastric	stomach
26	chr5:1870400-1871800	Weak transcription	Fetal Heart	heart
27	chr5:1870600-1871400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:1871000-1872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:1871200-1872600	Weak transcription	Gastric	stomach
30	chr5:1871400-1871600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr5:1871600-1872800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:1871800-1873400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:1871800-1874000	Enhancers	Fetal Heart	heart
34	chr5:1872600-1873000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:1872600-1873000	Active TSS	Gastric	stomach
36	chr5:1872800-1873000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr5:1872800-1873000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:1872800-1873200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:1872800-1873200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:1873000-1873200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:1873000-1874600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:1873200-1873600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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