Variant report

Variant	esv2319655
Chromosome Location	chr13:50072324-50072790
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50068795..50071791-chr13:50072712..50074851,3	K562	blood:
2	chr13:50071814..50073656-chr13:50077738..50079536,2	MCF-7	breast:
3	chr13:50068795..50071828-chr13:50072712..50075254,3	K562	blood:
4	chr13:50070028..50071869-chr13:50072608..50075376,5	MCF-7	breast:
5	chr13:50071647..50073472-chr13:50180377..50183221,3	MCF-7	breast:
6	chr13:50016483..50020444-chr13:50068529..50072853,4	MCF-7	breast:
7	chr13:50016715..50020360-chr13:50068508..50074036,7	MCF-7	breast:
8	chr13:50072605..50075983-chr13:50085931..50088388,3	MCF-7	breast:
9	chr13:50071845..50075663-chr13:50092471..50095842,3	K562	blood:
10	chr13:50072641..50077099-chr13:50079863..50082927,4	MCF-7	breast:
11	chr13:50061049..50067624-chr13:50068104..50073631,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136147	chromatin interactions
ENSG00000136169	chromatin interactions
ENSG00000102547	chromatin interactions
ENSG00000236577	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549865159	chr13:50072409-50072410	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs77929895	chr13:50072429-50072430	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs370224386	chr13:50072481-50072482	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184742832	chr13:50072509-50072510	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs9591266	chr13:50072517-50072518	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs9596118	chr13:50072522-50072523	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs9596119	chr13:50072540-50072541	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs116675837	chr13:50072552-50072553	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs567058528	chr13:50072553-50072554	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs114364303	chr13:50072554-50072555	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs150832976	chr13:50072561-50072562	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs575531873	chr13:50072569-50072570	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs9591267	chr13:50072579-50072580	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534530706	chr13:50072586-50072587	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs146577810	chr13:50072587-50072588	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs140053749	chr13:50072588-50072589	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540290836	chr13:50072589-50072590	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs114729800	chr13:50072592-50072593	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12584665	chr13:50072627-50072628	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115260793	chr13:50072631-50072632	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070600-50073400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:50070800-50072600	Weak transcription	Liver	Liver
4	chr13:50070800-50072800	Weak transcription	Fetal Intestine Large	intestine
5	chr13:50070800-50073600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:50070800-50073600	Weak transcription	HMEC	breast
7	chr13:50070800-50074200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:50070800-50074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:50070800-50074400	Weak transcription	Small Intestine	intestine
10	chr13:50070800-50074800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:50070800-50076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:50070800-50076200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:50070800-50076400	Weak transcription	Fetal Lung	lung
14	chr13:50070800-50076800	Weak transcription	Left Ventricle	heart
15	chr13:50070800-50077000	Weak transcription	Gastric	stomach
16	chr13:50070800-50086600	Weak transcription	Psoas Muscle	Psoas
17	chr13:50070800-50086800	Weak transcription	Ovary	ovary
18	chr13:50070800-50087400	Weak transcription	Placenta	Placenta
19	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
21	chr13:50070800-50087800	Weak transcription	NHEK	skin
22	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
24	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
25	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
28	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
29	chr13:50071000-50072400	Enhancers	Primary B cells from peripheral blood	blood
30	chr13:50071000-50072400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:50071000-50072600	Weak transcription	NHDF-Ad	bronchial
32	chr13:50071000-50072800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:50071000-50072800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50071000-50072800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:50071000-50072800	Weak transcription	Fetal Heart	heart
36	chr13:50071000-50072800	Weak transcription	NHLF	lung
37	chr13:50071000-50073000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:50071000-50073000	Weak transcription	Primary T cells from cord blood	blood
39	chr13:50071000-50073000	Weak transcription	Osteobl	bone
40	chr13:50071000-50073200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr13:50071000-50073200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:50071000-50073400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:50071000-50073400	Weak transcription	NH-A	brain
44	chr13:50071000-50073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:50071000-50073600	Weak transcription	HSMM	muscle
46	chr13:50071000-50074200	Weak transcription	HSMMtube	muscle
47	chr13:50071000-50074400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr13:50071000-50074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:50071000-50074800	Weak transcription	Fetal Stomach	stomach
50	chr13:50071000-50075000	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links