Variant report

Variant	esv3385253
Chromosome Location	chr13:50081551-50083499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50068457..50070652-chr13:50081260..50083175,3	MCF-7	breast:
2	chr13:50072641..50077099-chr13:50079863..50082927,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136147	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141954993	chr13:50081587-50081588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188060187	chr13:50081613-50081614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193012930	chr13:50081635-50081636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561315992	chr13:50081668-50081669	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112049377	chr13:50081696-50081697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559825637	chr13:50081715-50081716	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149654122	chr13:50081733-50081734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543688942	chr13:50081760-50081761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373060903	chr13:50081817-50081818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564962529	chr13:50081880-50081881	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528501560	chr13:50081883-50081884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547619981	chr13:50081989-50081990	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547497340	chr13:50082015-50082016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551352194	chr13:50082038-50082039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530131813	chr13:50082056-50082057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548404124	chr13:50082096-50082097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569733934	chr13:50082168-50082169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7319587	chr13:50082256-50082257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs552471687	chr13:50082259-50082260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183457535	chr13:50082289-50082290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200118558	chr13:50082366-50082367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534552303	chr13:50082394-50082395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28770211	chr13:50082429-50082430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145517543	chr13:50082433-50082434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200998024	chr13:50082454-50082455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148841046	chr13:50082456-50082457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9568228	chr13:50082463-50082464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9568229	chr13:50082464-50082465	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201674350	chr13:50082465-50082466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143561719	chr13:50082468-50082469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150978371	chr13:50082472-50082473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535186535	chr13:50082480-50082481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9562887	chr13:50082488-50082489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568633138	chr13:50082542-50082543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555174812	chr13:50082571-50082572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576203653	chr13:50082666-50082667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116681482	chr13:50082672-50082673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76903292	chr13:50082748-50082749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576827015	chr13:50082849-50082850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541460035	chr13:50082891-50082892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551911786	chr13:50082929-50082930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559476498	chr13:50082930-50082931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530244929	chr13:50082957-50082958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548370028	chr13:50082982-50082983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549739864	chr13:50082987-50082988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568897013	chr13:50083101-50083102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530689629	chr13:50083109-50083110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188855572	chr13:50083140-50083141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11423473	chr13:50083351-50083352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397954629	chr13:50083365-50083366	Weak transcription Strong transcription	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:129 , 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	chr13:50070800-50086600	Weak transcription	Psoas Muscle	Psoas
3	chr13:50070800-50086800	Weak transcription	Ovary	ovary
4	chr13:50070800-50087400	Weak transcription	Placenta	Placenta
5	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
7	chr13:50070800-50087800	Weak transcription	NHEK	skin
8	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
10	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
11	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
14	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
15	chr13:50071000-50087800	Weak transcription	Colonic Mucosa	Colon
16	chr13:50071000-50087800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:50071000-50087800	Weak transcription	Right Ventricle	heart
18	chr13:50071000-50088000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:50071000-50093400	Weak transcription	HepG2	liver
20	chr13:50071200-50081600	Weak transcription	Thymus	Thymus
21	chr13:50071400-50081600	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:50071400-50087000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:50071400-50087200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr13:50071800-50087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:50071800-50088000	Weak transcription	Pancreas	Pancrea
26	chr13:50073800-50081600	Weak transcription	Liver	Liver
27	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:50074800-50086400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:50075000-50086800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:50075000-50087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:50075000-50087800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr13:50075000-50087800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:50075000-50088200	Weak transcription	HMEC	breast
34	chr13:50075000-50102400	Weak transcription	NH-A	brain
35	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
36	chr13:50075200-50087800	Weak transcription	Osteobl	bone
37	chr13:50075400-50088000	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:50077400-50083600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:50077400-50087800	Weak transcription	Left Ventricle	heart
40	chr13:50077600-50081600	Weak transcription	HUVEC	blood vessel
41	chr13:50077600-50086600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:50077600-50086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:50077600-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:50077600-50088000	Weak transcription	Gastric	stomach
45	chr13:50077600-50088000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:50077600-50088000	Weak transcription	Spleen	Spleen
47	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:50077800-50083600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:50077800-50084000	Weak transcription	Adipose Nuclei	Adipose
50	chr13:50078000-50084000	Weak transcription	Fetal Lung	lung

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