Variant report

Variant	esv3427279
Chromosome Location	chr13:95676351-95678649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112975730	chr13:95676359-95676360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139190400	chr13:95676365-95676366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534086454	chr13:95676398-95676399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554470792	chr13:95676444-95676445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72136958	chr13:95676461-95676462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142492160	chr13:95676462-95676463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370224734	chr13:95676463-95676464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55775131	chr13:95676464-95676465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9584274	chr13:95676465-95676466	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375331387	chr13:95676468-95676469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71207428	chr13:95676470-95676471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367596650	chr13:95676473-95676474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4773838	chr13:95676492-95676493	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4771904	chr13:95676542-95676543	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576107237	chr13:95676596-95676597	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9805226	chr13:95676644-95676645	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs191478934	chr13:95676688-95676689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9302039	chr13:95676691-95676692	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149517130	chr13:95676767-95676768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114067350	chr13:95676772-95676773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577542489	chr13:95676803-95676804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567375688	chr13:95676823-95676824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114719300	chr13:95676874-95676875	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562582893	chr13:95676894-95676895	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73555524	chr13:95677002-95677003	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575480352	chr13:95677249-95677250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184172187	chr13:95677263-95677264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113959468	chr13:95677272-95677273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56297484	chr13:95677278-95677279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538142030	chr13:95677322-95677323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527903629	chr13:95677340-95677341	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73555526	chr13:95677350-95677351	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554878800	chr13:95677372-95677373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73555527	chr13:95677383-95677384	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540184722	chr13:95677403-95677404	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201832566	chr13:95677421-95677422	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75080423	chr13:95677431-95677432	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs202160354	chr13:95677433-95677434	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144253731	chr13:95677454-95677455	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs71111583	chr13:95677464-95677465	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79300363	chr13:95677475-95677476	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs57889764	chr13:95677480-95677481	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61638041	chr13:95677487-95677488	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201375760	chr13:95677490-95677491	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs71431493	chr13:95677494-95677495	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs56203355	chr13:95677495-95677496	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368659653	chr13:95677497-95677498	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201653046	chr13:95677499-95677500	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs59930646	chr13:95677501-95677502	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141043385	chr13:95677502-95677503	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	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
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95655600-95722600	Weak transcription	Gastric	stomach
2	chr13:95661400-95694000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:95666800-95681800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:95668600-95712000	Weak transcription	NHDF-Ad	bronchial
5	chr13:95669000-95680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:95669000-95686400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:95669400-95686000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:95669400-95690800	Weak transcription	Ovary	ovary
9	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:95669600-95686200	Weak transcription	NHLF	lung
11	chr13:95669600-95692000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
13	chr13:95670000-95690600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:95670200-95677400	Weak transcription	HSMM	muscle
15	chr13:95671400-95690800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:95671400-95690800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:95671400-95722200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:95671600-95688600	Weak transcription	Right Ventricle	heart
19	chr13:95671600-95692200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:95672600-95686600	Weak transcription	A549	lung
21	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
22	chr13:95673000-95688600	Weak transcription	HSMMtube	muscle
23	chr13:95673200-95676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:95673200-95677400	Weak transcription	K562	blood
25	chr13:95673200-95693200	Weak transcription	Primary T cells from cord blood	blood
26	chr13:95673400-95678000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr13:95673400-95680000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:95673600-95686600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:95673600-95690800	Weak transcription	GM12878-XiMat	blood
30	chr13:95673800-95690400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:95674600-95690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:95675400-95693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:95675600-95677000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95675600-95677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:95676000-95677200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:95676000-95677400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr13:95676000-95677400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:95676400-95676800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:95676400-95677400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:95676600-95677000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:95677000-95680200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:95677200-95682800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:95677400-95677600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:95677400-95677600	Active TSS	HSMM	muscle
46	chr13:95677400-95677600	Flanking Active TSS	K562	blood
47	chr13:95677400-95677800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr13:95677400-95677800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr13:95677400-95693600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:95677600-95677800	Flanking Active TSS	HSMM	muscle

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