Variant report

Variant	nsv508357
Chromosome Location	chr5:57304472-57360187
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	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
2	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
3	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
4	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
5	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
6	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
7	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
8	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
9	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
10	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
11	chr5:57342588..57345255-chr5:57743719..57745899,2	MCF-7	breast:
12	chr5:57358822..57360505-chr5:57370261..57371953,2	MCF-7	breast:
13	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
14	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
15	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
16	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
17	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
18	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
19	chr5:57352872..57354791-chr5:57754482..57756403,2	MCF-7	breast:
20	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
21	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
22	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions
ENSG00000167258	chromatin interactions

Extended variants
information (count: 1557 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1557 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76007434	chr5:57304496-57304497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190841683	chr5:57304508-57304509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1387635	chr5:57304519-57304520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1387634	chr5:57304526-57304527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138013808	chr5:57304528-57304529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78767157	chr5:57304532-57304533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182241520	chr5:57304549-57304550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543678733	chr5:57304578-57304579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569633477	chr5:57304587-57304588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114280315	chr5:57304590-57304591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1387633	chr5:57304602-57304603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116043418	chr5:57304640-57304641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142676517	chr5:57304666-57304667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10940586	chr5:57304683-57304684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568034128	chr5:57304689-57304690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186861559	chr5:57304706-57304707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369299929	chr5:57304728-57304729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115568149	chr5:57304734-57304735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191658244	chr5:57304744-57304745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542319704	chr5:57304757-57304758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551206277	chr5:57304758-57304759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558973890	chr5:57304771-57304772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75710929	chr5:57304799-57304800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541017781	chr5:57304805-57304806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72753316	chr5:57304806-57304807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565925422	chr5:57304868-57304869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374132641	chr5:57304885-57304886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541908211	chr5:57304889-57304890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563172783	chr5:57304929-57304930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541462372	chr5:57304958-57304959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183114875	chr5:57304972-57304973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386688310	chr5:57304973-57304974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146849230	chr5:57304975-57304976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564186042	chr5:57304981-57304982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146021227	chr5:57305053-57305054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55736710	chr5:57305082-57305083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568031546	chr5:57305114-57305115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535572401	chr5:57305145-57305146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550691547	chr5:57305152-57305153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77263042	chr5:57305154-57305155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144967649	chr5:57305158-57305159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537599003	chr5:57305168-57305169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559205047	chr5:57305182-57305183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116698778	chr5:57305202-57305203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572356423	chr5:57305205-57305206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139826446	chr5:57305211-57305212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143145915	chr5:57305245-57305246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190432858	chr5:57305264-57305265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60343863	chr5:57305293-57305294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563432724	chr5:57305314-57305315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57304400-57304600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:57304600-57305600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:57304800-57307200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:57305400-57306200	Enhancers	Brain Germinal Matrix	brain
6	chr5:57305600-57309000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:57306600-57307200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:57306600-57308400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:57307200-57312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:57307600-57308000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:57307800-57308000	Enhancers	K562	blood
12	chr5:57308000-57308200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:57308000-57308200	Enhancers	Hela-S3	cervix
14	chr5:57308000-57309000	Weak transcription	K562	blood
15	chr5:57308200-57311200	Weak transcription	Hela-S3	cervix
16	chr5:57308200-57311800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:57308400-57311800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:57309000-57309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:57309000-57310600	Enhancers	K562	blood
20	chr5:57309400-57310600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
22	chr5:57310200-57310800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:57310600-57310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:57310600-57311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:57310800-57312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:57311200-57311400	Enhancers	Left Ventricle	heart
27	chr5:57311200-57312400	Enhancers	Hela-S3	cervix
28	chr5:57311400-57312200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
30	chr5:57311800-57312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:57311800-57312800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:57311800-57312800	Enhancers	HSMM	muscle
33	chr5:57311800-57313000	Enhancers	HMEC	breast
34	chr5:57311800-57313200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:57311800-57314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:57312000-57313000	Enhancers	HSMMtube	muscle
38	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
40	chr5:57312200-57313000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:57312200-57313000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:57312200-57313200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:57312400-57312600	Enhancers	Fetal Muscle Leg	muscle
44	chr5:57312400-57312600	Enhancers	Psoas Muscle	Psoas
45	chr5:57312400-57312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:57312400-57312800	Enhancers	Placenta	Placenta
47	chr5:57312400-57312800	Flanking Active TSS	Hela-S3	cervix
48	chr5:57312400-57313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:57312400-57313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:57312400-57313600	Enhancers	Brain Germinal Matrix	brain

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