Variant report

Variant	nsv430595
Chromosome Location	chr13:85499399-85566699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1481 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80148376	chr13:85499627-85499628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191831355	chr13:85499634-85499635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9531676	chr13:85499682-85499683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184813745	chr13:85499759-85499760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9565980	chr13:85499781-85499782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190098173	chr13:85499788-85499789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575946111	chr13:85499811-85499812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543382836	chr13:85499816-85499817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528699305	chr13:85499834-85499835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529326452	chr13:85499862-85499863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35450751	chr13:85499865-85499866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35938788	chr13:85499901-85499902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373415472	chr13:85499925-85499926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139089385	chr13:85500015-85500016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375055671	chr13:85500017-85500018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530545391	chr13:85500031-85500032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541551731	chr13:85500042-85500043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559692131	chr13:85500062-85500063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550625298	chr13:85500084-85500085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75715852	chr13:85500093-85500094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552090744	chr13:85500130-85500131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570332140	chr13:85500197-85500198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531254114	chr13:85500209-85500210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549751548	chr13:85500253-85500254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568057647	chr13:85500267-85500268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193146241	chr13:85500322-85500323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147187452	chr13:85500435-85500436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553859882	chr13:85500446-85500447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565720807	chr13:85500449-85500450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536411257	chr13:85500493-85500494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185710494	chr13:85500497-85500498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189357148	chr13:85500560-85500561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539212072	chr13:85500594-85500595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557551096	chr13:85500597-85500598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181733516	chr13:85500601-85500602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17078797	chr13:85500670-85500671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs555464147	chr13:85500709-85500710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149784503	chr13:85500749-85500750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568920845	chr13:85500781-85500782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145680668	chr13:85500783-85500784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185167279	chr13:85500826-85500827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375889064	chr13:85500869-85500870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370501656	chr13:85500887-85500888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578156704	chr13:85500929-85500930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372946567	chr13:85500951-85500952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538937853	chr13:85500975-85500976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376701799	chr13:85500998-85500999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4322558	chr13:85501028-85501029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561504810	chr13:85501037-85501038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528917953	chr13:85501059-85501060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85499600-85499800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:85499800-85526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:85501400-85501600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:85501400-85502000	Enhancers	Esophagus	oesophagus
5	chr13:85501600-85503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:85506400-85509000	Weak transcription	Right Atrium	heart
7	chr13:85507800-85508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:85507800-85509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:85508000-85508200	Enhancers	Fetal Kidney	kidney
10	chr13:85508000-85508400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:85508000-85508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:85508200-85508400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr13:85508200-85509200	Weak transcription	Fetal Kidney	kidney
14	chr13:85508400-85516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:85508600-85509000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:85508600-85509000	Enhancers	Fetal Lung	lung
17	chr13:85508800-85509400	Active TSS	Stomach Smooth Muscle	stomach
18	chr13:85508800-85509600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:85508800-85509600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:85508800-85509800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:85509000-85509200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:85509000-85509200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:85509000-85509200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:85509000-85509200	Active TSS	Liver	Liver
25	chr13:85509000-85509400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:85509000-85509400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:85509000-85509400	Active TSS	Primary B cells from cord blood	blood
28	chr13:85509000-85509400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:85509000-85509400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:85509000-85509400	Active TSS	Brain Substantia Nigra	brain
31	chr13:85509000-85509400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr13:85509000-85509400	Active TSS	Fetal Lung	lung
33	chr13:85509000-85509400	Active TSS	Right Atrium	heart
34	chr13:85509000-85509400	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr13:85509000-85509400	Active TSS	NHEK	skin
36	chr13:85509000-85509600	Active TSS	Primary hematopoietic stem cells	blood
37	chr13:85509000-85509600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:85509000-85509600	Active TSS	Duodenum Mucosa	Duodenum
39	chr13:85509000-85509600	Active TSS	A549	lung
40	chr13:85509000-85509600	Active TSS	NHLF	lung
41	chr13:85509200-85509400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr13:85509200-85509400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:85509200-85509400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:85509200-85509400	Enhancers	Adipose Nuclei	Adipose
45	chr13:85509200-85509400	Flanking Active TSS	Liver	Liver
46	chr13:85509200-85509400	Enhancers	Fetal Kidney	kidney
47	chr13:85509200-85509400	Enhancers	Dnd41	blood
48	chr13:85509200-85509600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr13:85509200-85509600	Active TSS	Colon Smooth Muscle	Colon
50	chr13:85509400-85509600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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