Variant report

Variant	esv3398820
Chromosome Location	chr13:110796251-110800649
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	chr13:110791009..110793227-chr13:110794639..110796832,2	MCF-7	breast:
2	chr13:110790546..110793559-chr13:110794348..110799306,5	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549957542	chr13:110796279-110796280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371851547	chr13:110796303-110796304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528875490	chr13:110796331-110796332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569889269	chr13:110796425-110796426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35691308	chr13:110796524-110796525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73624510	chr13:110796553-110796554	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74550236	chr13:110796555-110796556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568531909	chr13:110796614-110796615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs595240	chr13:110796627-110796628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112579233	chr13:110796630-110796631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539956260	chr13:110796681-110796682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77047477	chr13:110796718-110796719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182992316	chr13:110796747-110796748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76523496	chr13:110796769-110796770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187535683	chr13:110796806-110796807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376339216	chr13:110796843-110796844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74993548	chr13:110796844-110796845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55711914	chr13:110796854-110796855	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78875160	chr13:110796855-110796856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577750424	chr13:110796859-110796860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571009345	chr13:110796864-110796865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35544230	chr13:110796881-110796882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372401868	chr13:110796907-110796908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77884914	chr13:110796908-110796909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537635966	chr13:110796917-110796918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559943957	chr13:110796950-110796951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573588893	chr13:110796996-110796997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12430434	chr13:110796997-110796998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576264423	chr13:110797010-110797011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192695941	chr13:110797026-110797027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184890126	chr13:110797032-110797033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551279574	chr13:110797041-110797042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541900073	chr13:110797043-110797044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12430449	chr13:110797072-110797073	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140288125	chr13:110797092-110797093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142115299	chr13:110797098-110797099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539128632	chr13:110797099-110797100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112772819	chr13:110797121-110797122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77682506	chr13:110797133-110797134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568892575	chr13:110797136-110797137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372838222	chr13:110797152-110797153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537785927	chr13:110797191-110797192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144071662	chr13:110797196-110797197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577769013	chr13:110797211-110797212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148129028	chr13:110797267-110797268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553830686	chr13:110797354-110797355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77746839	chr13:110797389-110797390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77056277	chr13:110797401-110797402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377271581	chr13:110797404-110797405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113975779	chr13:110797439-110797440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110790600-110798400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:110791200-110798200	Weak transcription	Fetal Kidney	kidney
3	chr13:110791200-110798400	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:110791200-110798600	Weak transcription	Aorta	Aorta
5	chr13:110791200-110800600	Weak transcription	HSMMtube	muscle
6	chr13:110791200-110800800	Weak transcription	Fetal Intestine Large	intestine
7	chr13:110791200-110802400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:110791200-110807200	Weak transcription	Colonic Mucosa	Colon
9	chr13:110791200-110811600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:110791200-110811800	Weak transcription	Right Atrium	heart
11	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
12	chr13:110791400-110796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:110791400-110796800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:110791400-110796800	Weak transcription	Fetal Stomach	stomach
15	chr13:110791400-110798800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:110791400-110799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:110791400-110799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:110791400-110799600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:110791400-110799800	Weak transcription	Left Ventricle	heart
20	chr13:110791400-110800000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:110791400-110800000	Weak transcription	Ovary	ovary
22	chr13:110791400-110800200	Weak transcription	NH-A	brain
23	chr13:110791400-110800400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:110791400-110800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:110791400-110800600	Weak transcription	Lung	lung
26	chr13:110791400-110800600	Weak transcription	Right Ventricle	heart
27	chr13:110791400-110800800	Weak transcription	Placenta	Placenta
28	chr13:110791400-110801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:110791400-110802200	Weak transcription	Fetal Heart	heart
30	chr13:110791400-110802400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:110791400-110802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:110791400-110802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:110791400-110802400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:110791400-110802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:110791400-110802600	Weak transcription	Pancreas	Pancrea
36	chr13:110791400-110802600	Weak transcription	Spleen	Spleen
37	chr13:110791400-110802600	Weak transcription	NHEK	skin
38	chr13:110791400-110802600	Weak transcription	NHLF	lung
39	chr13:110791400-110802800	Weak transcription	Liver	Liver
40	chr13:110791400-110802800	Weak transcription	Fetal Intestine Small	intestine
41	chr13:110791400-110806600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:110791400-110825800	Weak transcription	A549	lung
46	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
47	chr13:110791600-110796800	Weak transcription	Adipose Nuclei	Adipose
48	chr13:110791600-110797800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr13:110791600-110798800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:110791600-110800000	Weak transcription	HUVEC	blood vessel

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