Variant report

Variant	esv2759943
Chromosome Location	chr13:67005812-67119200
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	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
2	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
3	chr13:67027655..67028155-chr8:43092779..43093429,2	MCF-7	breast:
4	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
5	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
6	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
7	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
8	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
9	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
10	chr10:29694023..29695542-chr13:67026635..67028155,2	MCF-7	breast:
11	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:

No data

Extended variants
information (count: 3428 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3428 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540756	chr13:67005812-67005813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544224470	chr13:67005815-67005816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114647610	chr13:67005842-67005843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576063544	chr13:67005849-67005850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80272318	chr13:67005873-67005874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555991728	chr13:67005883-67005884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115315181	chr13:67005911-67005912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541729531	chr13:67005932-67005933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181783524	chr13:67005941-67005942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114358771	chr13:67005954-67005955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577942603	chr13:67005976-67005977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543456258	chr13:67006013-67006014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563763059	chr13:67006017-67006018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529780151	chr13:67006025-67006026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186439230	chr13:67006047-67006048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115267460	chr13:67006141-67006142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139252133	chr13:67006172-67006173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527519210	chr13:67006204-67006205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547638007	chr13:67006205-67006206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190635897	chr13:67006232-67006233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532898627	chr13:67006234-67006235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549500084	chr13:67006244-67006245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183185138	chr13:67006275-67006276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535521137	chr13:67006281-67006282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560626073	chr13:67006294-67006295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555534708	chr13:67006324-67006325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566242025	chr13:67006365-67006366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185651918	chr13:67006475-67006476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566679927	chr13:67006476-67006477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149990736	chr13:67006522-67006523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544136652	chr13:67006523-67006524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191542286	chr13:67006684-67006685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573728547	chr13:67006691-67006692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542699003	chr13:67006714-67006715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145238560	chr13:67006795-67006796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116676998	chr13:67006797-67006798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547033978	chr13:67006904-67006905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183099913	chr13:67006937-67006938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564344767	chr13:67007021-67007022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533070600	chr13:67007040-67007041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149168735	chr13:67007077-67007078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569652214	chr13:67007101-67007102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376616407	chr13:67007106-67007107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187742386	chr13:67007107-67007108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9529064	chr13:67007194-67007195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565783152	chr13:67007254-67007255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192363208	chr13:67007298-67007299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143768484	chr13:67007300-67007301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571857983	chr13:67007301-67007302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537325224	chr13:67007331-67007332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67000800-67006800	Weak transcription	HSMM	muscle
2	chr13:67003800-67006000	Enhancers	Brain Hippocampus Middle	brain
3	chr13:67004800-67006000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:67005400-67016400	Weak transcription	Brain Substantia Nigra	brain
5	chr13:67006000-67007000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:67006800-67007000	Enhancers	HSMM	muscle
7	chr13:67015400-67015600	Enhancers	Brain Hippocampus Middle	brain
8	chr13:67015600-67022200	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:67016400-67017400	Enhancers	Brain Substantia Nigra	brain
10	chr13:67017000-67017400	Enhancers	Brain Anterior Caudate	brain
11	chr13:67017400-67023000	Weak transcription	Brain Anterior Caudate	brain
12	chr13:67018800-67019000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:67020200-67020800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:67022200-67022800	Enhancers	Brain Hippocampus Middle	brain
15	chr13:67023000-67023200	Enhancers	Brain Anterior Caudate	brain
16	chr13:67026400-67028000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:67027600-67028000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:67031200-67031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:67031600-67032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:67032000-67032200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:67032200-67034400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:67033000-67033400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr13:67033200-67033400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:67034400-67035000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:67034800-67035200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:67034800-67035800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr13:67034800-67036000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:67034800-67036400	Enhancers	Adipose Nuclei	Adipose
29	chr13:67035000-67035200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:67035000-67035400	Enhancers	HSMM	muscle
31	chr13:67035000-67035800	Enhancers	Osteobl	bone
32	chr13:67035000-67036000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:67035200-67035600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:67035400-67035800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:67035600-67036000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:67035600-67036400	Enhancers	Brain Angular Gyrus	brain
37	chr13:67035800-67037000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:67036000-67036400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:67036200-67036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:67036200-67037800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:67036400-67038400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:67036600-67036800	Enhancers	Brain Hippocampus Middle	brain
43	chr13:67036600-67037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:67036600-67037200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr13:67036600-67038800	Enhancers	Brain Substantia Nigra	brain
46	chr13:67037000-67038000	Enhancers	Brain Anterior Caudate	brain
47	chr13:67037000-67038400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:67037200-67037400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:67037200-67037600	Enhancers	Brain Hippocampus Middle	brain
50	chr13:67037200-67038400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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