Variant report

Variant	esv2508393
Chromosome Location	chr13:96632734-96634311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96623472..96625702-chr13:96633366..96635270,2	K562	blood:
2	chr13:96632367..96634450-chr13:96637310..96639783,2	K562	blood:
3	chr13:96632367..96634292-chr13:96635472..96638810,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377347045	chr13:96632734-96632735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373117469	chr13:96632762-96632763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553565845	chr13:96632769-96632770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191941712	chr13:96632830-96632831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576465330	chr13:96632873-96632874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540133172	chr13:96632908-96632909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74575704	chr13:96632910-96632911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539062635	chr13:96632922-96632923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144167293	chr13:96632924-96632925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183706348	chr13:96632932-96632933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186934389	chr13:96632941-96632942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572142294	chr13:96632951-96632952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540747340	chr13:96632963-96632964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370713735	chr13:96633022-96633023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532314913	chr13:96633027-96633028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537099494	chr13:96633034-96633035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532614325	chr13:96633066-96633067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552623259	chr13:96633103-96633104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562833697	chr13:96633119-96633120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148678703	chr13:96633151-96633152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548468846	chr13:96633177-96633178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35205573	chr13:96633224-96633225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550932210	chr13:96633274-96633275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143385763	chr13:96633304-96633305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568667919	chr13:96633338-96633339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534117452	chr13:96633361-96633362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536717979	chr13:96633395-96633396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148959618	chr13:96633434-96633435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371980304	chr13:96633437-96633438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375218994	chr13:96633438-96633439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112521879	chr13:96633440-96633441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547937072	chr13:96633597-96633598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570235521	chr13:96633598-96633599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539099067	chr13:96633609-96633610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576914362	chr13:96633610-96633611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555750051	chr13:96633611-96633612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199627661	chr13:96633739-96633740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185780837	chr13:96633740-96633741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555624398	chr13:96633825-96633826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575621686	chr13:96633857-96633858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575958789	chr13:96633865-96633866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76841255	chr13:96633883-96633884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574774989	chr13:96633897-96633898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555349758	chr13:96633901-96633902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189812518	chr13:96633904-96633905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540880851	chr13:96633908-96633909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146723019	chr13:96633919-96633920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534926060	chr13:96633965-96633966	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181786264	chr13:96633999-96634000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546313040	chr13:96634057-96634058	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96609800-96636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:96612200-96655000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:96612200-96668600	Weak transcription	Pancreas	Pancrea
4	chr13:96613200-96694200	Weak transcription	A549	lung
5	chr13:96613400-96634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:96613400-96641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:96613400-96643000	Weak transcription	Right Ventricle	heart
8	chr13:96613600-96650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:96613600-96663600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:96614000-96652400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:96616200-96668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:96616400-96636200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:96616800-96668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:96617000-96649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:96617000-96663200	Weak transcription	NHDF-Ad	bronchial
16	chr13:96617400-96638200	Weak transcription	HSMMtube	muscle
17	chr13:96618800-96654200	Weak transcription	Fetal Lung	lung
18	chr13:96619000-96634200	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:96619600-96638200	Weak transcription	Fetal Intestine Small	intestine
20	chr13:96621000-96634400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:96621000-96636800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:96621400-96634200	Weak transcription	Left Ventricle	heart
23	chr13:96621600-96668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:96621800-96636800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:96622000-96637600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:96622000-96668600	Weak transcription	Aorta	Aorta
27	chr13:96622200-96634000	Weak transcription	Adipose Nuclei	Adipose
28	chr13:96622200-96634600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:96622200-96660400	Weak transcription	Ovary	ovary
30	chr13:96622200-96668600	Weak transcription	Fetal Kidney	kidney
31	chr13:96622200-96671400	Weak transcription	Hela-S3	cervix
32	chr13:96622200-96677200	Weak transcription	NH-A	brain
33	chr13:96622400-96637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:96622400-96668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:96622800-96647800	Weak transcription	HSMM	muscle
36	chr13:96623600-96668200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:96627000-96643400	Weak transcription	HepG2	liver
38	chr13:96628600-96639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:96630200-96660400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:96630400-96639400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:96630600-96633800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:96631000-96634400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:96632400-96657600	Weak transcription	GM12878-XiMat	blood
44	chr13:96632600-96634400	Weak transcription	Fetal Stomach	stomach
45	chr13:96632800-96657800	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:96633200-96636600	Weak transcription	Fetal Intestine Large	intestine
47	chr13:96633800-96635200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:96634000-96635600	Strong transcription	Adipose Nuclei	Adipose
49	chr13:96634000-96636000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:96634000-96639400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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