Variant report

Variant	esv1827163
Chromosome Location	chr13:38073542-38088108
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	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9532068	chr13:38073542-38073543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143046914	chr13:38073589-38073590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561961122	chr13:38073656-38073657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527591896	chr13:38073660-38073661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547625683	chr13:38073661-38073662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370206697	chr13:38073678-38073679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533712631	chr13:38073690-38073691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149856578	chr13:38073704-38073705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112158678	chr13:38073721-38073722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9547913	chr13:38073738-38073739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554683762	chr13:38073761-38073762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139755677	chr13:38073766-38073767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182737467	chr13:38073863-38073864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36107185	chr13:38073980-38073981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535988820	chr13:38073987-38073988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187863164	chr13:38074006-38074007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192061741	chr13:38074022-38074023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74509670	chr13:38074052-38074053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73448593	chr13:38074084-38074085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577936800	chr13:38074091-38074092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146534409	chr13:38074105-38074106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34141180	chr13:38074106-38074107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149164929	chr13:38074132-38074133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541957802	chr13:38074147-38074148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183982096	chr13:38074165-38074166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532265591	chr13:38074178-38074179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527443683	chr13:38074185-38074186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143275141	chr13:38074215-38074216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151199601	chr13:38074242-38074243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559101004	chr13:38074301-38074302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533293460	chr13:38074480-38074481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187586093	chr13:38074539-38074540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570112188	chr13:38074544-38074545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73180688	chr13:38074606-38074607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534643362	chr13:38074728-38074729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192175434	chr13:38074749-38074750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114409363	chr13:38074792-38074793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117228945	chr13:38074859-38074860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114975669	chr13:38074860-38074861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115959972	chr13:38074937-38074938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535509374	chr13:38074997-38074998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60897708	chr13:38075077-38075078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9547914	chr13:38075082-38075083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377667913	chr13:38075101-38075102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116265337	chr13:38075151-38075152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550216616	chr13:38075167-38075168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34617531	chr13:38075191-38075192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572008269	chr13:38075276-38075277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9532069	chr13:38075286-38075287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572069163	chr13:38075332-38075333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38069600-38073800	Weak transcription	NHLF	lung
2	chr13:38069800-38075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38070000-38073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:38070000-38075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:38073200-38074200	Enhancers	Osteobl	bone
6	chr13:38073600-38074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:38074200-38076200	Weak transcription	Osteobl	bone
8	chr13:38075000-38076400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:38075200-38075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38075600-38075800	Enhancers	NHLF	lung
11	chr13:38076200-38076400	Enhancers	Osteobl	bone
12	chr13:38077400-38077800	Enhancers	Fetal Heart	heart
13	chr13:38079600-38080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:38083800-38084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:38083800-38084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:38083800-38084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:38083800-38084400	Enhancers	Osteobl	bone
18	chr13:38083800-38085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:38083800-38085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:38084000-38084200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:38084000-38084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:38084000-38084200	Flanking Active TSS	NHEK	skin
23	chr13:38084000-38084600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:38084200-38084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:38084200-38084400	Active TSS	NHEK	skin
26	chr13:38084200-38084600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:38084200-38084600	Enhancers	HMEC	breast
28	chr13:38084400-38084600	Flanking Active TSS	NHEK	skin
29	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:38084600-38085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:38084600-38085600	Enhancers	NHEK	skin
32	chr13:38085200-38085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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