Variant report

Variant	nsv596908
Chromosome Location	chr5:2186956-2254295
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:2224946..2228743-chr5:2231359..2234600,3	K562	blood:
2	chr5:2247108..2248655-chr5:2250843..2253199,2	MCF-7	breast:
3	chr5:2199358..2202641-chr5:2202750..2204826,3	K562	blood:
4	chr5:2194335..2197106-chr5:2198597..2201677,3	K562	blood:
5	chr5:2194335..2197106-chr5:2198597..2201677,3	K562	blood:
6	chr13:108479098..108479832-chr5:2234032..2234558,2	MCF-7	breast:
7	chr5:2238584..2240763-chr5:2243557..2245140,2	K562	blood:
8	chr5:2172730..2175692-chr5:2193909..2195679,2	K562	blood:
9	chr5:2199358..2202641-chr5:2202750..2204826,3	K562	blood:
10	chr5:2224946..2228743-chr5:2231359..2234600,3	K562	blood:
11	chr5:2196715..2198359-chr5:2200115..2201772,2	MCF-7	breast:
12	chr5:2247108..2248655-chr5:2250843..2253199,2	MCF-7	breast:
13	chr5:2211700..2213965-chr5:2215705..2217902,2	K562	blood:
14	chr5:2177408..2179073-chr5:2187197..2190154,2	MCF-7	breast:
15	chr5:2184241..2186171-chr5:2203581..2206214,2	K562	blood:
16	chr5:2211700..2213965-chr5:2215705..2217902,2	K562	blood:
17	chr5:1882886..1884587-chr5:2207431..2210324,2	MCF-7	breast:
18	chr5:2211289..2213779-chr5:2754665..2756743,2	MCF-7	breast:
19	chr5:2254103..2254977-chr5:2695570..2696209,2	MCF-7	breast:
20	chr5:2251075..2253995-chr5:2833329..2835606,2	MCF-7	breast:
21	chr5:2196715..2198359-chr5:2200115..2201772,2	MCF-7	breast:
22	chr5:2238584..2240763-chr5:2243557..2245140,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249116	chromatin interactions
ENSG00000248137	chromatin interactions
ENSG00000201026	chromatin interactions

Extended variants
information (count: 1880 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1880 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4866652	chr5:2186956-2186957	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557321456	chr5:2186967-2186968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193187613	chr5:2186973-2186974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546124862	chr5:2186987-2186988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555085678	chr5:2187007-2187008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554402138	chr5:2187012-2187013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73734640	chr5:2187052-2187053	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572468810	chr5:2187068-2187069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539854870	chr5:2187072-2187073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115185844	chr5:2187086-2187087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529025533	chr5:2187112-2187113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139705365	chr5:2187159-2187160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562705976	chr5:2187186-2187187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115544550	chr5:2187245-2187246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551674889	chr5:2187284-2187285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566789504	chr5:2187301-2187302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528454658	chr5:2187335-2187336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546681550	chr5:2187350-2187351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199505132	chr5:2187406-2187407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568539810	chr5:2187407-2187408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535619362	chr5:2187422-2187423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185080695	chr5:2187462-2187463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543553871	chr5:2187464-2187465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188728721	chr5:2187525-2187526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181056168	chr5:2187532-2187533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145294661	chr5:2187550-2187551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369534874	chr5:2187553-2187554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564875261	chr5:2187570-2187571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546953681	chr5:2187571-2187572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185092089	chr5:2187576-2187577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138016863	chr5:2187578-2187579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188044570	chr5:2187580-2187581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533777729	chr5:2187589-2187590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374537445	chr5:2187600-2187601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555109000	chr5:2187669-2187670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182187624	chr5:2187670-2187671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532996922	chr5:2187708-2187709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544872201	chr5:2187713-2187714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544001932	chr5:2187731-2187732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562592190	chr5:2187773-2187774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147226691	chr5:2187781-2187782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545234934	chr5:2187799-2187800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115459631	chr5:2187800-2187801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140699180	chr5:2187801-2187802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76208975	chr5:2187832-2187833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561976944	chr5:2187851-2187852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187624442	chr5:2187881-2187882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6555070	chr5:2187894-2187895	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6868332	chr5:2187956-2187957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565657525	chr5:2187971-2187972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	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
Breast cancer	21364760	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2185600-2188200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:2186400-2192000	Weak transcription	Spleen	Spleen
3	chr5:2188200-2190600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:2192000-2192200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:2192000-2192200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:2192000-2192200	Enhancers	Spleen	Spleen
7	chr5:2194000-2194200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr5:2196200-2198600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:2196400-2197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:2196400-2197600	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr5:2196400-2197800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:2196600-2197600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:2196600-2197600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:2196800-2197200	Bivalent Enhancer	Fetal Lung	lung
15	chr5:2196800-2197800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:2197000-2198000	Bivalent Enhancer	Fetal Kidney	kidney
17	chr5:2197200-2197400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr5:2197200-2197600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:2197400-2197600	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr5:2197600-2198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:2197600-2198600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:2197800-2200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:2198200-2198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:2198600-2200600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:2198600-2200800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:2200200-2201400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:2200400-2201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:2200600-2201400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:2200600-2201400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:2200600-2202200	Enhancers	Fetal Brain Male	brain
31	chr5:2200800-2201000	Bivalent Enhancer	Fetal Brain Female	brain
32	chr5:2200800-2201400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:2200800-2201400	Enhancers	Esophagus	oesophagus
34	chr5:2201400-2203000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:2201400-2203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:2201400-2205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:2201400-2207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:2203000-2205400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:2203000-2205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:2203200-2204000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:2203400-2204400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:2203600-2204000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:2203600-2204200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:2203600-2204200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:2203600-2204200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:2203600-2204600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:2203600-2204800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:2203600-2205000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:2203800-2204200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:2203800-2204600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links