Variant report

Variant	esv2756050
Chromosome Location	chr13:93614714-93657802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93620635..93621312-chr13:93768821..93769658,2	MCF-7	breast:
2	chr13:93617783..93619579-chr13:93620877..93623420,2	MCF-7	breast:
3	chr13:93644919..93647830-chr13:93878863..93880934,2	MCF-7	breast:
4	chr13:93617783..93619579-chr13:93620877..93623420,2	MCF-7	breast:
5	chr13:93619887..93622736-chr13:93878141..93880890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183098	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542212337	chr13:93618623-93618624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527871525	chr13:93618643-93618644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556579305	chr13:93618644-93618645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111672533	chr13:93618659-93618660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373786859	chr13:93618669-93618670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566417165	chr13:93618739-93618740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9523871	chr13:93618766-93618767	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs377078245	chr13:93618829-93618830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559859151	chr13:93618831-93618832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573371622	chr13:93618866-93618867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187026535	chr13:93618870-93618871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190285761	chr13:93618890-93618891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4773697	chr13:93618922-93618923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs531266200	chr13:93618941-93618942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9516146	chr13:93619204-93619205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183234398	chr13:93619253-93619254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541625949	chr13:93619255-93619256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202207100	chr13:93619278-93619279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138199469	chr13:93619279-93619280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373562437	chr13:93619280-93619281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561311235	chr13:93619305-93619306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188516463	chr13:93619332-93619333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547123933	chr13:93619361-93619362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147349300	chr13:93619373-93619374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73633682	chr13:93619374-93619375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139501166	chr13:93619424-93619425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537792409	chr13:93619428-93619429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571442024	chr13:93619431-93619432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8000092	chr13:93619442-93619443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556493280	chr13:93619520-93619521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566933650	chr13:93619549-93619550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548060463	chr13:93619587-93619588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549379690	chr13:93619606-93619607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367872969	chr13:93619607-93619608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370492324	chr13:93619640-93619641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57246249	chr13:93619642-93619643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58245323	chr13:93619644-93619645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202009980	chr13:93619645-93619646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9301843	chr13:93619646-93619647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147296922	chr13:93619647-93619648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59027832	chr13:93619648-93619649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76282312	chr13:93619650-93619651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9783553	chr13:93619654-93619655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375478518	chr13:93619658-93619659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9584081	chr13:93619661-93619662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571371012	chr13:93619670-93619671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60369711	chr13:93619671-93619672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533716846	chr13:93619726-93619727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552813203	chr13:93619730-93619731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8000706	chr13:93619735-93619736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Small bowel adenocarcinoma	21586687	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93618600-93619000	Enhancers	Pancreas	Pancrea
2	chr13:93618800-93619000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:93619200-93620600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:93620600-93621800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:93626800-93627600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:93628200-93628400	Enhancers	Spleen	Spleen
7	chr13:93630000-93630400	Enhancers	Fetal Intestine Large	intestine
8	chr13:93638800-93645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:93640400-93640600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:93640800-93643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:93641600-93642400	Enhancers	NHEK	skin
12	chr13:93641800-93642200	Enhancers	HMEC	breast
13	chr13:93642200-93646000	Weak transcription	HMEC	breast
14	chr13:93642400-93646000	Weak transcription	NHEK	skin
15	chr13:93643000-93643200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:93643200-93643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:93643200-93645000	Enhancers	HSMM	muscle
18	chr13:93643600-93644800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:93643800-93644600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:93643800-93644600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:93643800-93644600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:93643800-93644600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:93643800-93644600	Enhancers	NH-A	brain
24	chr13:93643800-93644800	Enhancers	HSMMtube	muscle
25	chr13:93644600-93646000	Weak transcription	NH-A	brain
26	chr13:93644600-93646200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:93644800-93646000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:93645400-93647400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:93646000-93646600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:93646000-93646600	Enhancers	NHEK	skin
31	chr13:93646000-93646800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:93646000-93646800	Enhancers	HSMM	muscle
33	chr13:93646000-93646800	Enhancers	NH-A	brain
34	chr13:93646000-93647000	Enhancers	Osteobl	bone
35	chr13:93646000-93647200	Enhancers	HMEC	breast
36	chr13:93646200-93646800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:93646200-93646800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:93646600-93646800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr13:93646600-93647000	Flanking Active TSS	NHEK	skin
40	chr13:93646800-93647000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr13:93647000-93647400	Enhancers	NHEK	skin
42	chr13:93647400-93649200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links