Variant report

Variant	esv3357146
Chromosome Location	chr13:111008023-111008262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56972432	chr13:111008024-111008025	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558601591	chr13:111008025-111008026	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74189094	chr13:111008026-111008027	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs67087108	chr13:111008030-111008031	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192290776	chr13:111008035-111008036	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59697516	chr13:111008038-111008039	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67275267	chr13:111008040-111008041	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71127934	chr13:111008042-111008043	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58439859	chr13:111008057-111008058	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67275266	chr13:111008059-111008060	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397954248	chr13:111008063-111008064	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377725028	chr13:111008071-111008072	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370906554	chr13:111008073-111008074	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373673628	chr13:111008074-111008075	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58018473	chr13:111008082-111008083	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374629592	chr13:111008091-111008092	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199960749	chr13:111008094-111008095	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9521708	chr13:111008096-111008097	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376681863	chr13:111008104-111008105	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9521709	chr13:111008106-111008107	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201105855	chr13:111008122-111008123	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200746862	chr13:111008123-111008124	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9521710	chr13:111008124-111008125	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111517577	chr13:111008128-111008129	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148449769	chr13:111008133-111008134	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533570358	chr13:111008136-111008137	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9521711	chr13:111008155-111008156	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147290764	chr13:111008169-111008170	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367822208	chr13:111008171-111008172	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545319533	chr13:111008175-111008176	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199741604	chr13:111008180-111008181	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150428545	chr13:111008187-111008188	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368317810	chr13:111008188-111008189	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146690666	chr13:111008190-111008191	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202010525	chr13:111008192-111008193	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138665050	chr13:111008193-111008194	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9521712	chr13:111008202-111008203	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144205325	chr13:111008205-111008206	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139822179	chr13:111008240-111008241	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149795177	chr13:111008244-111008245	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187330711	chr13:111008248-111008249	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113487193	chr13:111008254-111008255	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371526034	chr13:111008255-111008256	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192707167	chr13:111008256-111008257	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111000000-111009400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111000000-111009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111000600-111008600	Weak transcription	Esophagus	oesophagus
6	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:111001000-111009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:111001200-111009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:111001600-111012200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:111001800-111009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:111001800-111009800	Weak transcription	NHLF	lung
13	chr13:111002000-111010400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
15	chr13:111002200-111008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:111002400-111008600	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:111002400-111009800	Weak transcription	HSMMtube	muscle
18	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
19	chr13:111003200-111009600	Enhancers	Fetal Heart	heart
20	chr13:111003200-111009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:111003200-111009800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:111003400-111009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:111004000-111009600	Enhancers	Colon Smooth Muscle	Colon
24	chr13:111004400-111009000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:111004400-111009800	Weak transcription	HUVEC	blood vessel
26	chr13:111004600-111009800	Weak transcription	NHEK	skin
27	chr13:111004600-111012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:111005000-111012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:111005400-111009800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:111005600-111009800	Weak transcription	Ovary	ovary
31	chr13:111006000-111008600	Weak transcription	Aorta	Aorta
32	chr13:111006000-111013000	Weak transcription	Spleen	Spleen
33	chr13:111006200-111008200	Weak transcription	Right Ventricle	heart
34	chr13:111006200-111009200	Weak transcription	Osteobl	bone
35	chr13:111006200-111009600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:111006200-111009600	Weak transcription	Placenta	Placenta
37	chr13:111006400-111008600	Enhancers	Stomach Smooth Muscle	stomach
38	chr13:111006600-111008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:111006600-111008800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr13:111006800-111008600	Weak transcription	Right Atrium	heart
41	chr13:111006800-111010800	Weak transcription	HSMM	muscle
42	chr13:111007000-111009200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr13:111007200-111008400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr13:111007200-111008400	Enhancers	HMEC	breast
45	chr13:111007200-111008800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:111007200-111009000	Enhancers	Pancreas	Pancrea
47	chr13:111007200-111009600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:111007200-111012200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111007400-111008600	Weak transcription	Adipose Nuclei	Adipose
50	chr13:111007400-111010400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links