Variant report

Variant	esv3326710
Chromosome Location	chr13:50638451-50640599
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50640517..50642548-chr13:50652959..50655248,2	K562	blood:
2	chr13:50637736..50639789-chr13:50653357..50655544,2	K562	blood:
3	chr13:50638410..50642177-chr13:50643409..50648630,6	K562	blood:
4	chr13:50637584..50641226-chr13:50648962..50651293,3	K562	blood:
5	chr13:50587681..50590217-chr13:50636928..50639656,2	K562	blood:
6	chr13:50628303..50631311-chr13:50635379..50638823,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU1-1	chr13:50639582-50641525	NONHSAT033807
2	lnc-DLEU1-1	chr13:50640237-50640735	XLOC_010389
3	lnc-DLEU1-1	chr13:50638816-50639103	XLOC_010389

No data

Variant related genes	Relation type
ENSG00000198553	chromatin interactions
CEP164	miRNA target sites
GMEB2	miRNA target sites

Extended variants
information (count: 73 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551656928	chr13:50638472-50638473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566795429	chr13:50638532-50638533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2066566	chr13:50638579-50638580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2760920	chr13:50638585-50638586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35355589	chr13:50638587-50638588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2066567	chr13:50638588-50638589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374768790	chr13:50638589-50638590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537481144	chr13:50638622-50638623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143627855	chr13:50638630-50638631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556027303	chr13:50638635-50638636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138004779	chr13:50638636-50638637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7988593	chr13:50638655-50638656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74483405	chr13:50638720-50638721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117237609	chr13:50638754-50638755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573216692	chr13:50638814-50638815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542463583	chr13:50638832-50638833	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs117500863	chr13:50638834-50638835	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs117704427	chr13:50638884-50638885	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs74600143	chr13:50638897-50638898	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs78663497	chr13:50638898-50638899	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs574197831	chr13:50638936-50638937	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs544654444	chr13:50638976-50638977	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs562845232	chr13:50639007-50639008	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs143899503	chr13:50639027-50639028	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs533331635	chr13:50639098-50639099	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs372765874	chr13:50639200-50639201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555240269	chr13:50639205-50639206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545433810	chr13:50639225-50639226	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532657469	chr13:50639288-50639289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185718200	chr13:50639307-50639308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373423710	chr13:50639346-50639347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528294818	chr13:50639348-50639349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527564957	chr13:50639354-50639355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550570739	chr13:50639369-50639370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565979587	chr13:50639395-50639396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549346526	chr13:50639400-50639401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546366402	chr13:50639419-50639420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561706795	chr13:50639447-50639448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189300158	chr13:50639473-50639474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199729637	chr13:50639484-50639485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9568373	chr13:50639502-50639503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7331247	chr13:50639518-50639519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531413851	chr13:50639519-50639520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549799484	chr13:50639524-50639525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2740549	chr13:50639528-50639529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183873650	chr13:50639547-50639548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28430351	chr13:50639554-50639555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571273957	chr13:50639559-50639560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201126596	chr13:50639580-50639581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs36179992	chr13:50639586-50639587	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Chronic lymphocytic leukemia	21670202	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
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
4	chr13:50588000-50645600	Weak transcription	Ovary	ovary
5	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
7	chr13:50594800-50641000	Weak transcription	Lung	lung
8	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
15	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
17	chr13:50608600-50639800	Weak transcription	NHLF	lung
18	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
19	chr13:50612200-50639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:50612400-50639800	Strong transcription	Dnd41	blood
21	chr13:50612400-50643000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr13:50612600-50639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
25	chr13:50614000-50643800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr13:50615200-50643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
28	chr13:50616600-50639800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:50617400-50640400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:50619400-50640200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
35	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:50623400-50639800	Weak transcription	Fetal Heart	heart
37	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
39	chr13:50625000-50640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:50625200-50639800	Weak transcription	HepG2	liver
41	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr13:50626400-50639800	Weak transcription	Liver	Liver
44	chr13:50626400-50641000	Weak transcription	Fetal Intestine Small	intestine
45	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr13:50627000-50639800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:50627200-50641000	Weak transcription	Fetal Intestine Large	intestine
48	chr13:50627400-50639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
50	chr13:50629000-50640400	Weak transcription	Primary T cells from cord blood	blood

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