Variant report

Variant	esv3365838
Chromosome Location	chr13:93883460-93883795
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	chr13:93882241..93884489-chr13:93897048..93899523,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181097692	chr13:93883470-93883471	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145213428	chr13:93883479-93883480	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9561283	chr13:93883485-93883486	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs71873506	chr13:93883583-93883584	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9523966	chr13:93883584-93883585	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201400348	chr13:93883594-93883595	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185306460	chr13:93883595-93883596	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9561284	chr13:93883597-93883598	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9561285	chr13:93883599-93883600	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112326832	chr13:93883602-93883603	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112898610	chr13:93883613-93883614	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs368724283	chr13:93883614-93883615	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141039897	chr13:93883622-93883623	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs56963430	chr13:93883632-93883633	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs181818960	chr13:93883633-93883634	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs71123470	chr13:93883634-93883635	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs187410896	chr13:93883635-93883636	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs555060567	chr13:93883636-93883637	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192199592	chr13:93883637-93883638	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs58171098	chr13:93883645-93883646	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs9556273	chr13:93883648-93883649	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs9561286	chr13:93883650-93883651	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs574799613	chr13:93883654-93883655	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs71123471	chr13:93883666-93883667	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs576072107	chr13:93883677-93883678	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs9561287	chr13:93883678-93883679	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs10716317	chr13:93883679-93883680	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs386508576	chr13:93883683-93883684	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs201590953	chr13:93883687-93883688	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs373152265	chr13:93883691-93883692	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201384982	chr13:93883701-93883702	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs74108032	chr13:93883763-93883764	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111261321	chr13:93883774-93883775	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs530539732	chr13:93883775-93883776	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs372659718	chr13:93883776-93883777	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs185182269	chr13:93883793-93883794	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	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
Gastrointestinal stromal cancer	20818650	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	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
Non-syndromic sensorineural hearing loss	21987784	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93881000-93886000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:93881200-93885800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:93881800-93883600	Enhancers	HMEC	breast
4	chr13:93881800-93884400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:93881800-93887400	Weak transcription	NHDF-Ad	bronchial
6	chr13:93882000-93884000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:93882000-93885800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:93882000-93886400	Weak transcription	Ovary	ovary
9	chr13:93882200-93884800	Enhancers	Fetal Intestine Small	intestine
10	chr13:93882200-93885800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:93882400-93884600	Enhancers	Fetal Intestine Large	intestine
12	chr13:93882600-93884400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:93882800-93884000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:93882800-93884200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:93882800-93884800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:93883000-93883600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:93883000-93884400	Weak transcription	Fetal Kidney	kidney
18	chr13:93883000-93884400	Weak transcription	A549	lung
19	chr13:93883200-93883600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:93883200-93883600	Enhancers	Osteobl	bone
21	chr13:93883200-93883800	Enhancers	Liver	Liver
22	chr13:93883200-93883800	Enhancers	HepG2	liver
23	chr13:93883200-93884000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:93883200-93884200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:93883200-93884200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:93883200-93884400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:93883200-93884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:93883200-93885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:93883200-93885800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:93883200-93885800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:93883200-93885800	Weak transcription	Adipose Nuclei	Adipose
32	chr13:93883200-93886000	Weak transcription	Fetal Stomach	stomach
33	chr13:93883200-93886200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:93883200-93886400	Weak transcription	Aorta	Aorta
35	chr13:93883200-93887600	Weak transcription	Fetal Lung	lung
36	chr13:93883200-93888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:93883200-93888400	Weak transcription	NH-A	brain
38	chr13:93883200-93890000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:93883200-93896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:93883200-93896000	Weak transcription	HSMM	muscle
41	chr13:93883400-93883800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:93883400-93884800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:93883400-93887400	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:93883400-93887800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:93883400-93888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:93883600-93884200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr13:93883600-93885800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr13:93883600-93886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:93883600-93886400	Weak transcription	Osteobl	bone
50	chr13:93883600-93887400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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