Variant report

Variant	nsv1037
Chromosome Location	chr13:49919578-49926725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:49922727-49922811	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr13:49919460-49919610	K562	blood:	n/a	n/a
3	CTCF	chr13:49919480-49919630	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr13:49919540-49919690	GM12878	blood:	n/a	n/a
5	CTCF	chr13:49919540-49919690	HCT-116	colon:	n/a	n/a
6	CTCF	chr13:49919826-49919896	K562	blood:	n/a	n/a
7	CTCF	chr13:49919620-49919770	HAc	cerebellar:	n/a	n/a
8	CTCF	chr13:49919520-49919670	GM12873	blood:	n/a	n/a
9	FOSL2	chr13:49925966-49926477	SK-N-SH	brain:	n/a	chr13:49926445-49926454
10	GATA1	chr13:49919358-49919938	PBDE	blood:	n/a	chr13:49919390-49919399
11	GATA3	chr13:49925738-49926566	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr13:49925872-49926482	SK-N-SH	brain:	n/a	n/a
13	JUND	chr13:49925263-49925415	K562	blood:	n/a	chr13:49925388-49925398 chr13:49925388-49925398
14	MAFK	chr13:49925881-49926480	IMR90	lung:	n/a	n/a
15	PBX3	chr13:49925974-49926662	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr13:49920300-49920328	HUVEC	blood vessel:	n/a	n/a
17	RCOR1	chr13:49925608-49925682	K562	blood:	n/a	n/a
18	SP1	chr13:49921843-49922091	H1-hESC	embryonic stem cell:	n/a	chr13:49921945-49921959
19	STAT3	chr13:49926557-49926619	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr13:49925948-49926693	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr13:49925886-49926720	SK-N-SH	brain:	n/a	n/a
22	TCF7L2	chr13:49921140-49921340	HepG2	liver:	n/a	chr13:49921214-49921221
23	ZNF143	chr13:49922820-49923089	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF384	chr13:49920394-49920439	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:49925538-49925588	AG09319	gingival:	n/a
2	chr13:49921879-49921929	Hepatocyte	liver:	n/a
3	chr13:49925538-49925588	H1-hESC	embryonic stem cell:	embryo
4	chr13:49925538-49925588	BJ	skin:	n/a
5	chr13:49921879-49921929	CMK	blood:	n/a
6	chr13:49921879-49921929	SAEC	small airway:	n/a
7	chr13:49925538-49925588	GM12878	blood:	n/a
8	chr13:49921879-49921929	NH-A	brain:	n/a
9	chr13:49925538-49925588	NHDF-neo	bronchial:	n/a
10	chr13:49921879-49921929	MCF-7	breast:	n/a
11	chr13:49925538-49925588	MCF-7	breast:	n/a
12	chr13:49925538-49925588	Jurkat	blood:	n/a
13	chr13:49925538-49925588	PrEC	prostate:	n/a
14	chr13:49921879-49921929	HCF	heart:	n/a
15	chr13:49921879-49921929	HL-60	blood:	n/a
16	chr13:49921879-49921929	HCPEpiC	choroid plexus:	n/a
17	chr13:49925538-49925588	Hepatocyte	liver:	n/a
18	chr13:49925538-49925588	RPTEC	kidney:	n/a
19	chr13:49925538-49925588	A549	lung:	n/a
20	chr13:49921879-49921929	Hela-S3	cervix:	n/a
21	chr13:49925538-49925588	SK-N-SH	brain:	n/a
22	chr13:49921879-49921929	HEK293	kidney:	embryo
23	chr13:49925538-49925588	HRCEpiC	kidney:	n/a
24	chr13:49925538-49925588	HCPEpiC	choroid plexus:	n/a
25	chr13:49925538-49925588	AG10803	skin:	n/a
26	chr13:49925538-49925588	CMK	blood:	n/a
27	chr13:49925538-49925588	AG09309	skin:	n/a
28	chr13:49921879-49921929	A549	lung:	n/a
29	chr13:49925538-49925588	U87	brain:	n/a
30	chr13:49925538-49925588	GM06990	blood:	n/a
31	chr13:49925538-49925588	HMEC	breast:	n/a
32	chr13:49925538-49925588	AG04449	skin:	fetal
33	chr13:49925538-49925588	HRPEpiC	eye:	n/a
34	chr13:49921879-49921929	H1-hESC	embryonic stem cell:	embryo
35	chr13:49921879-49921929	HMEC	breast:	n/a
36	chr13:49925538-49925588	LNCaP	prostate:	n/a
37	chr13:49921879-49921929	GM12892	blood:	n/a
38	chr13:49925538-49925588	ProgFib	skin:	n/a
39	chr13:49921879-49921929	SKMC	muscle:	n/a
40	chr13:49925538-49925588	HNPCEpiC	eye:	n/a
41	chr13:49921879-49921929	AG04450	lung:	fetal
42	chr13:49925538-49925588	SKMC	muscle:	n/a
43	chr13:49925538-49925588	BE2_C	brain:	n/a
44	chr13:49925538-49925588	NHBE	bronchial:	n/a
45	chr13:49925538-49925588	NT2-D1	testis:	n/a
46	chr13:49921879-49921929	NT2-D1	testis:	n/a
47	chr13:49925538-49925588	AoSMC	blood vessel:	n/a
48	chr13:49925538-49925588	GM19239	blood:	n/a
49	chr13:49921879-49921929	BE2_C	brain:	n/a
50	chr13:49925538-49925588	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49919468..49922351-chr13:50179863..50182327,2	K562	blood:

No data

Variant related genes	Relation type
CAB39L	TF binding region
CAB39L	CpG island

Extended variants
information (count: 251 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549383036	chr13:49919578-49919579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564589613	chr13:49919649-49919650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369651880	chr13:49919712-49919713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74682685	chr13:49919717-49919718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200333863	chr13:49919748-49919749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551938919	chr13:49919756-49919757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566998263	chr13:49919790-49919791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190134790	chr13:49919796-49919797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1198503	chr13:49919861-49919862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567975275	chr13:49919862-49919863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114649332	chr13:49919871-49919872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556601581	chr13:49919878-49919879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547845534	chr13:49919933-49919934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578115389	chr13:49919934-49919935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538797020	chr13:49919935-49919936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182715599	chr13:49920029-49920030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187351227	chr13:49920173-49920174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6145048	chr13:49920206-49920207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540741635	chr13:49920210-49920211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10576159	chr13:49920212-49920213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55718704	chr13:49920224-49920225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56675112	chr13:49920225-49920226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60881105	chr13:49920230-49920231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3035406	chr13:49920231-49920232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201475046	chr13:49920234-49920235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373127972	chr13:49920236-49920237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553929271	chr13:49920246-49920247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10663110	chr13:49920256-49920257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs68173818	chr13:49920257-49920258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71076079	chr13:49920260-49920261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55738022	chr13:49920263-49920264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572178769	chr13:49920267-49920268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542895341	chr13:49920345-49920346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560817361	chr13:49920372-49920373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56232559	chr13:49920377-49920378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530226266	chr13:49920401-49920402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76336450	chr13:49920420-49920421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78924640	chr13:49920470-49920471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569717736	chr13:49920472-49920473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58683390	chr13:49920483-49920484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192977841	chr13:49920514-49920515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540794641	chr13:49920594-49920595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35547629	chr13:49920672-49920673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79327263	chr13:49920722-49920723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527847002	chr13:49920726-49920727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138324437	chr13:49920775-49920776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9596084	chr13:49920776-49920777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532055130	chr13:49920806-49920807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185614511	chr13:49920819-49920820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs117729347	chr13:49920830-49920831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
4	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:49888400-49922200	Weak transcription	Gastric	stomach
7	chr13:49888600-49922200	Weak transcription	Lung	lung
8	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
11	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:49891800-49922000	Weak transcription	Left Ventricle	heart
14	chr13:49895000-49927600	Weak transcription	NHLF	lung
15	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
17	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:49904400-49919800	Weak transcription	Ovary	ovary
19	chr13:49904400-49922200	Weak transcription	Pancreas	Pancrea
20	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
22	chr13:49904600-49922000	Weak transcription	Right Ventricle	heart
23	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
24	chr13:49905400-49922200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:49905800-49919600	Weak transcription	Fetal Lung	lung
26	chr13:49909200-49923800	Weak transcription	Fetal Intestine Small	intestine
27	chr13:49911200-49922400	Weak transcription	Placenta	Placenta
28	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:49912800-49924200	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:49914000-49925200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:49914600-49922200	Weak transcription	Right Atrium	heart
33	chr13:49914800-49925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:49915000-49921800	Weak transcription	Fetal Stomach	stomach
35	chr13:49915000-49924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:49915000-49924400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:49915000-49929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:49916600-49920600	Weak transcription	Liver	Liver
40	chr13:49917000-49921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:49917600-49920400	Weak transcription	Fetal Heart	heart
42	chr13:49917600-49922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:49918000-49925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:49918000-49930000	Weak transcription	Osteobl	bone
45	chr13:49918200-49920600	Weak transcription	Fetal Intestine Large	intestine
46	chr13:49918200-49920800	Weak transcription	HSMMtube	muscle
47	chr13:49918200-49922200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:49918200-49922600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:49918200-49922600	Weak transcription	Colon Smooth Muscle	Colon
50	chr13:49918200-49925200	Weak transcription	Muscle Satellite Cultured Cells	--

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