Variant report

Variant	nsv968141
Chromosome Location	chr5:14796725-14801342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:14800193-14800494	MCF-7	breast:	n/a	n/a
2	HEY1	chr5:14798451-14798617	HepG2	liver:	n/a	n/a
3	HEY1	chr5:14798428-14798586	K562	blood:	n/a	n/a
4	POLR2A	chr5:14798437-14798573	A549	lung:	n/a	n/a
5	POLR2A	chr5:14798440-14798537	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:14798457-14798551	A549	lung:	n/a	n/a
7	POLR2A	chr5:14798449-14798579	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:14798345-14798358	ProgFib	skin:	n/a	n/a
9	POLR2A	chr5:14798454-14798568	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:14798225-14798547	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:14798460-14798555	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:14798458-14798550	A549	lung:	n/a	n/a
13	POLR2A	chr5:14798510-14798520	K562	blood:	n/a	n/a
14	POLR2A	chr5:14798464-14798548	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:14798496-14798546	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:14798367-14798549	ProgFib	skin:	n/a	n/a
17	POLR2A	chr5:14798470-14798538	A549	lung:	n/a	n/a
18	POLR2A	chr5:14798512-14798538	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr5:14797697-14797885	HepG2	liver:	n/a	n/a
20	RFX5	chr5:14800266-14800497	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr5:14798423-14798589	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr5:14798364-14798602	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14796002..14798417-chr5:14798624..14800724,2	MCF-7	breast:
2	chr5:14796002..14798417-chr5:14798624..14800724,2	MCF-7	breast:

No data

Variant related genes	Relation type
RBBP4P1	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568707094	chr5:14796740-14796741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529438153	chr5:14796750-14796751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375222680	chr5:14796755-14796756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547620156	chr5:14796907-14796908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565416036	chr5:14796920-14796921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376438871	chr5:14796942-14796943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113530517	chr5:14796967-14796968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569635404	chr5:14796996-14796997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76683260	chr5:14797054-14797055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367824364	chr5:14797100-14797101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555623889	chr5:14797112-14797113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574016268	chr5:14797191-14797192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34020395	chr5:14797254-14797255	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541202827	chr5:14797271-14797272	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142845776	chr5:14797314-14797315	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572539370	chr5:14797328-14797329	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34559034	chr5:14797386-14797387	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546331499	chr5:14797412-14797413	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564279767	chr5:14797430-14797431	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531731255	chr5:14797459-14797460	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527547624	chr5:14797475-14797476	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373192767	chr5:14797484-14797485	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562391245	chr5:14797485-14797486	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529573057	chr5:14797524-14797525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549305771	chr5:14797531-14797532	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565940824	chr5:14797563-14797564	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532816104	chr5:14797584-14797585	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551452414	chr5:14797614-14797615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553808716	chr5:14797615-14797616	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs31988	chr5:14797624-14797625	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs31989	chr5:14797660-14797661	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148292871	chr5:14797665-14797666	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558124890	chr5:14797674-14797675	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181550399	chr5:14797709-14797710	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185979446	chr5:14797713-14797714	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577917167	chr5:14797728-14797729	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188994580	chr5:14797737-14797738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558225257	chr5:14797778-14797779	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61742681	chr5:14797829-14797830	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543780533	chr5:14797830-14797831	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561964824	chr5:14797846-14797847	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372513840	chr5:14797848-14797849	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544074474	chr5:14797850-14797851	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573953163	chr5:14797917-14797918	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28558070	chr5:14797942-14797943	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541327183	chr5:14797989-14797990	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559664884	chr5:14797990-14797991	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533337337	chr5:14797991-14797992	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55658654	chr5:14797995-14797996	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563373943	chr5:14798062-14798063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:14776800-14809400	Weak transcription	HMEC	breast
4	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
7	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
10	chr5:14782200-14805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:14784800-14797400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:14784800-14806600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:14785800-14809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:14788400-14809600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:14788600-14809600	Weak transcription	Psoas Muscle	Psoas
16	chr5:14788800-14802000	Weak transcription	Spleen	Spleen
17	chr5:14788800-14809600	Weak transcription	Liver	Liver
18	chr5:14790600-14797800	Weak transcription	HSMM	muscle
19	chr5:14790600-14809800	Weak transcription	Stomach Mucosa	stomach
20	chr5:14791000-14806000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:14791000-14809600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:14791400-14809800	Weak transcription	Aorta	Aorta
23	chr5:14791600-14802800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:14791600-14809600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:14791600-14809600	Weak transcription	Small Intestine	intestine
26	chr5:14792200-14799400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:14792400-14801800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:14793800-14797600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14793800-14801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:14793800-14802000	Weak transcription	Lung	lung
31	chr5:14793800-14804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:14793800-14810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:14794200-14797600	Weak transcription	NHDF-Ad	bronchial
34	chr5:14794200-14798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:14794400-14802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:14794400-14802200	Weak transcription	Right Ventricle	heart
37	chr5:14794400-14805800	Weak transcription	HepG2	liver
38	chr5:14794600-14806600	Weak transcription	Gastric	stomach
39	chr5:14795200-14798600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:14795200-14801600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:14795200-14802000	Weak transcription	Left Ventricle	heart
42	chr5:14795200-14802000	Weak transcription	Thymus	Thymus
43	chr5:14795200-14809400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:14795200-14809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14795400-14797600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:14795400-14797800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:14795400-14800000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:14795400-14800600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:14795400-14801600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:14795400-14802000	Weak transcription	Dnd41	blood

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