Variant report

Variant	nsv519575
Chromosome Location	chr13:96537274-96540204
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	chr13:96534402..96537608-chr13:96544660..96547266,3	K562	blood:

Variant related genes	Relation type
ENSG00000102595	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1877475	chr13:96537274-96537275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576517861	chr13:96537321-96537322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192761205	chr13:96537339-96537340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148725806	chr13:96537347-96537348	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527634514	chr13:96537412-96537413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142279407	chr13:96537475-96537476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150816389	chr13:96537484-96537485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185380861	chr13:96537560-96537561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533143216	chr13:96537565-96537566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73558627	chr13:96537676-96537677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190674494	chr13:96537701-96537702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529023975	chr13:96537786-96537787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543571878	chr13:96537814-96537815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73558628	chr13:96537993-96537994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550260620	chr13:96537997-96537998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565689871	chr13:96538054-96538055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534566382	chr13:96538114-96538115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558106926	chr13:96538119-96538120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571593515	chr13:96538254-96538255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369382258	chr13:96538284-96538285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536935025	chr13:96538285-96538286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373755387	chr13:96538296-96538297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557164026	chr13:96538313-96538314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573754633	chr13:96538316-96538317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369366142	chr13:96538329-96538330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373646793	chr13:96538344-96538345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542314447	chr13:96538356-96538357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139416971	chr13:96538375-96538376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572121981	chr13:96538393-96538394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182326072	chr13:96538398-96538399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9516620	chr13:96538424-96538425	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs535942326	chr13:96538462-96538463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144499279	chr13:96538488-96538489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs207474277	chr13:96538565-96538566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573958667	chr13:96538569-96538570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186877294	chr13:96538595-96538596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146620832	chr13:96538602-96538603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78264048	chr13:96538620-96538621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189068592	chr13:96538653-96538654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181069282	chr13:96538656-96538657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528172865	chr13:96538660-96538661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553613990	chr13:96538661-96538662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61972902	chr13:96538677-96538678	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375898980	chr13:96538679-96538680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141338912	chr13:96538739-96538740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73558630	chr13:96538767-96538768	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76248264	chr13:96538777-96538778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185552867	chr13:96538784-96538785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567464616	chr13:96538839-96538840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536024167	chr13:96538892-96538893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
2	chr13:96495000-96590800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:96498400-96549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:96502600-96552600	Weak transcription	Brain Germinal Matrix	brain
5	chr13:96502800-96562600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:96503000-96567400	Weak transcription	NHEK	skin
7	chr13:96503200-96542000	Weak transcription	Brain Substantia Nigra	brain
8	chr13:96503200-96542000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:96503200-96542200	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:96503200-96558000	Weak transcription	NHDF-Ad	bronchial
11	chr13:96503200-96558200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:96503200-96558800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:96503400-96542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:96503400-96555400	Weak transcription	Fetal Heart	heart
15	chr13:96503400-96580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:96503600-96559000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:96503600-96562800	Weak transcription	Fetal Brain Female	brain
18	chr13:96503800-96548200	Weak transcription	A549	lung
19	chr13:96506600-96554800	Weak transcription	GM12878-XiMat	blood
20	chr13:96510800-96556000	Weak transcription	Psoas Muscle	Psoas
21	chr13:96511000-96537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:96511000-96559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:96511000-96559200	Weak transcription	Spleen	Spleen
24	chr13:96515000-96553400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:96515200-96542000	Weak transcription	Gastric	stomach
26	chr13:96518200-96553200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:96519600-96546400	Weak transcription	Right Ventricle	heart
28	chr13:96520800-96559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:96522400-96542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:96523000-96559000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:96523200-96547800	Weak transcription	Colon Smooth Muscle	Colon
32	chr13:96523200-96581800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr13:96523800-96542200	Weak transcription	Fetal Brain Male	brain
34	chr13:96524000-96561200	Weak transcription	HMEC	breast
35	chr13:96524200-96542600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:96524200-96560400	Weak transcription	Brain Angular Gyrus	brain
37	chr13:96524400-96537800	Weak transcription	NH-A	brain
38	chr13:96526400-96548200	Weak transcription	K562	blood
39	chr13:96527800-96559200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:96528200-96548200	Weak transcription	HUVEC	blood vessel
41	chr13:96528200-96558600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:96528800-96559000	Weak transcription	Ovary	ovary
43	chr13:96529000-96550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:96529200-96552600	Weak transcription	NHLF	lung
45	chr13:96529200-96558000	Weak transcription	Fetal Kidney	kidney
46	chr13:96529400-96537400	Weak transcription	Left Ventricle	heart
47	chr13:96529400-96537600	Weak transcription	Fetal Intestine Large	intestine
48	chr13:96529400-96542000	Weak transcription	Fetal Intestine Small	intestine
49	chr13:96529400-96542000	Weak transcription	Lung	lung
50	chr13:96529400-96542400	Weak transcription	Fetal Muscle Trunk	muscle

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