Variant report

Variant	esv3415884
Chromosome Location	chr13:49950701-49954799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:49951080-49951230	HBMEC	blood vessel:	n/a	n/a
2	NR2F2	chr13:49953431-49953786	K562	blood:	n/a	n/a
3	NR2F2	chr13:49953320-49953817	K562	blood:	n/a	n/a
4	PAX5	chr13:49951452-49951828	GM12878	blood:	n/a	n/a
5	PAX5	chr13:49951539-49951814	GM12878	blood:	n/a	n/a
6	PAX5	chr13:49951410-49951880	GM12878	blood:	n/a	n/a
7	PAX5	chr13:49951605-49951783	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:49952327-49952504	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:49952337-49952554	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49948746..49951030-chr13:49963060..49965178,2	K562	blood:

Variant related genes	Relation type
CAB39L	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144789833	chr13:49950717-49950718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35759866	chr13:49950755-49950756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556214919	chr13:49950761-49950762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549597711	chr13:49950788-49950789	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565162434	chr13:49950805-49950806	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369491810	chr13:49950882-49950883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186097463	chr13:49950886-49950887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576611176	chr13:49950964-49950965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547359353	chr13:49950970-49950971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572051437	chr13:49950994-49950995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138645754	chr13:49950995-49950996	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548277899	chr13:49951004-49951005	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111664849	chr13:49951027-49951028	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368998310	chr13:49951028-49951029	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569802873	chr13:49951040-49951041	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377645476	chr13:49951052-49951053	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10523262	chr13:49951057-49951058	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538420354	chr13:49951058-49951059	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556842982	chr13:49951059-49951060	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578190377	chr13:49951060-49951061	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538926400	chr13:49951062-49951063	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55902900	chr13:49951083-49951084	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs8002829	chr13:49951142-49951143	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs148907888	chr13:49951148-49951149	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200573889	chr13:49951160-49951161	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8002858	chr13:49951193-49951194	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554540098	chr13:49951198-49951199	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141795356	chr13:49951208-49951209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373312261	chr13:49951228-49951229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376996489	chr13:49951254-49951255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376586888	chr13:49951266-49951267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370126914	chr13:49951271-49951272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543207760	chr13:49951281-49951282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374830513	chr13:49951282-49951283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376074795	chr13:49951285-49951286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370379880	chr13:49951291-49951292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8002153	chr13:49951310-49951311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs8001903	chr13:49951389-49951390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377436032	chr13:49951415-49951416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376069958	chr13:49951479-49951480	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540921435	chr13:49951481-49951482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559620545	chr13:49951487-49951488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369688756	chr13:49951519-49951520	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6561523	chr13:49951521-49951522	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569765914	chr13:49951568-49951569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530664387	chr13:49951569-49951570	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552258313	chr13:49951581-49951582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571704947	chr13:49951582-49951583	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539244662	chr13:49951585-49951586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376673308	chr13:49951657-49951658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49922800-49951400	Weak transcription	Gastric	stomach
2	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
3	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
4	chr13:49938600-49961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49942800-49952800	Weak transcription	Aorta	Aorta
6	chr13:49944400-49951400	Enhancers	Fetal Heart	heart
7	chr13:49945000-49952000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:49945200-49973000	Weak transcription	Brain Substantia Nigra	brain
9	chr13:49946800-49961400	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:49946800-49961400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:49946800-49962600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:49946800-49964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:49947000-49952200	Weak transcription	Fetal Stomach	stomach
14	chr13:49948000-49950800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:49948000-49952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:49948200-49951200	Weak transcription	Stomach Mucosa	stomach
17	chr13:49948200-49961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:49948200-49961200	Weak transcription	Brain Angular Gyrus	brain
19	chr13:49948200-49961600	Weak transcription	Ovary	ovary
20	chr13:49948600-49953000	Weak transcription	Liver	Liver
21	chr13:49949000-49950800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:49949000-49951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:49949000-49951400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr13:49949000-49960800	Weak transcription	Right Atrium	heart
25	chr13:49949200-49951600	Weak transcription	Fetal Brain Female	brain
26	chr13:49949200-49961000	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:49949200-49961200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:49949200-49971200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:49949400-49959600	Weak transcription	NHDF-Ad	bronchial
30	chr13:49949600-49951400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:49949600-49954400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:49949600-49958800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:49949800-49951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:49949800-49951200	Enhancers	NHEK	skin
35	chr13:49950000-49951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:49950000-49951200	Strong transcription	Adipose Nuclei	Adipose
37	chr13:49950200-49951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:49950400-49951200	Strong transcription	Brain Anterior Caudate	brain
39	chr13:49950800-49951200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:49950800-49961600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:49951000-49951200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr13:49951200-49958000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:49951200-49959800	Weak transcription	Adipose Nuclei	Adipose
44	chr13:49951200-49961200	Weak transcription	Brain Anterior Caudate	brain

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