Variant report

Variant	nsv4840
Chromosome Location	chr5:57311002-57352746
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
2	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
3	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
4	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
5	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
6	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
7	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
8	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
9	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
10	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
11	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
12	chr5:57342588..57345255-chr5:57743719..57745899,2	MCF-7	breast:
13	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
14	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
15	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
16	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
17	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:
18	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
19	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
20	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167258	chromatin interactions
ENSG00000145632	chromatin interactions

Extended variants
information (count: 988 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541167235	chr5:57311012-57311013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575325790	chr5:57311019-57311020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553010792	chr5:57311062-57311063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556553230	chr5:57311094-57311095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199954290	chr5:57311102-57311103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76877294	chr5:57311103-57311104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1272817	chr5:57311120-57311121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541596662	chr5:57311165-57311166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2130359	chr5:57311168-57311169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368919725	chr5:57311205-57311206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563614764	chr5:57311288-57311289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184058565	chr5:57311313-57311314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62368406	chr5:57311323-57311324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113370035	chr5:57311359-57311360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528082185	chr5:57311392-57311393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35412619	chr5:57311420-57311421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546719833	chr5:57311425-57311426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377717332	chr5:57311455-57311456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546465084	chr5:57311501-57311502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10472030	chr5:57311558-57311559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548831807	chr5:57311559-57311560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570209563	chr5:57311580-57311581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537390451	chr5:57311594-57311595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559192982	chr5:57311596-57311597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141579403	chr5:57311608-57311609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111545711	chr5:57311649-57311650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150719341	chr5:57311654-57311655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550479206	chr5:57311662-57311663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138993513	chr5:57311711-57311712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574558289	chr5:57311723-57311724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76789820	chr5:57311737-57311738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62368407	chr5:57311770-57311771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575395676	chr5:57311800-57311801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62368408	chr5:57311821-57311822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572982881	chr5:57311828-57311829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564357124	chr5:57311840-57311841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189306010	chr5:57311861-57311862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62368409	chr5:57311863-57311864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149910788	chr5:57311881-57311882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78974629	chr5:57311888-57311889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143941510	chr5:57312004-57312005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11955912	chr5:57312008-57312009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373891375	chr5:57312075-57312076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531091192	chr5:57312096-57312097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140956283	chr5:57312141-57312142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1349956	chr5:57312154-57312155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs534713391	chr5:57312164-57312165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552984199	chr5:57312182-57312183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2898076	chr5:57312214-57312215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573635103	chr5:57312219-57312220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57307200-57312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:57308200-57311200	Weak transcription	Hela-S3	cervix
4	chr5:57308200-57311800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57308400-57311800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
7	chr5:57310600-57311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:57310800-57312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:57311200-57311400	Enhancers	Left Ventricle	heart
10	chr5:57311200-57312400	Enhancers	Hela-S3	cervix
11	chr5:57311400-57312200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
13	chr5:57311800-57312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:57311800-57312800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:57311800-57312800	Enhancers	HSMM	muscle
16	chr5:57311800-57313000	Enhancers	HMEC	breast
17	chr5:57311800-57313200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:57311800-57314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:57312000-57313000	Enhancers	HSMMtube	muscle
21	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
23	chr5:57312200-57313000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:57312200-57313000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:57312200-57313200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:57312400-57312600	Enhancers	Fetal Muscle Leg	muscle
27	chr5:57312400-57312600	Enhancers	Psoas Muscle	Psoas
28	chr5:57312400-57312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:57312400-57312800	Enhancers	Placenta	Placenta
30	chr5:57312400-57312800	Flanking Active TSS	Hela-S3	cervix
31	chr5:57312400-57313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:57312400-57313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:57312400-57313600	Enhancers	Brain Germinal Matrix	brain
34	chr5:57312600-57313000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
36	chr5:57312800-57313800	Enhancers	Fetal Lung	lung
37	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
38	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
40	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
42	chr5:57314000-57314200	Enhancers	Spleen	Spleen
43	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:57314400-57314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:57314400-57316000	Weak transcription	Spleen	Spleen
46	chr5:57314400-57316200	Enhancers	Fetal Heart	heart
47	chr5:57314400-57316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:57314600-57315000	Enhancers	Fetal Lung	lung
49	chr5:57314600-57315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:57314600-57316400	Enhancers	HUVEC	blood vessel

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