Variant report

Variant	nsv1052041
Chromosome Location	chr13:91174318-91219136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91202714..91204329-chr13:91304356..91306034,2	K562	blood:
2	chr13:91217173..91220077-chr13:91222325..91225635,3	K562	blood:
3	chr13:91199520..91203649-chr13:91208755..91211499,3	K562	blood:
4	chr13:91211018..91212874-chr13:91213382..91215314,2	K562	blood:
5	chr13:91199520..91203649-chr13:91208755..91211499,3	K562	blood:
6	chr13:91189932..91191525-chr13:91196808..91198746,2	K562	blood:
7	chr13:91211018..91212874-chr13:91213382..91215314,2	K562	blood:
8	chr13:91189932..91191525-chr13:91196808..91198746,2	K562	blood:
9	chr13:91135425..91137114-chr13:91184547..91186950,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-3	chr13:91187009-91187334	ENSG00000234384
2	lnc-GPC5-3	chr13:91187009-91187593	XLOC_010469
3	lnc-GPC5-3	chr13:91185030-91185074	NONHSAT034649
4	lnc-GPC5-3	chr13:91187009-91187596	NONHSAT034649
5	lnc-GPC5-3	chr13:91179654-91179752	NONHSAT034649
6	lnc-GPC5-3	chr13:91179654-91179752	XLOC_010469
7	lnc-GPC5-3	chr13:91185030-91185074	XLOC_010469
8	lnc-GPC5-3	chr13:91179654-91179752	ENSG00000234384
9	lnc-GPC5-3	chr13:91185030-91185074	ENSG00000234384

No data

Variant related genes	Relation type
MEIS1	miRNA target sites
PTEN	miRNA target sites
ARNTL	miRNA target sites

Extended variants
information (count: 472 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532982407	chr13:91178826-91178827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74103445	chr13:91178827-91178828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548251816	chr13:91178947-91178948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549361462	chr13:91178957-91178958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528799776	chr13:91178972-91178973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182930405	chr13:91178975-91178976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571792938	chr13:91178997-91178998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538898926	chr13:91179062-91179063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73585542	chr13:91179066-91179067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569057733	chr13:91179075-91179076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186090906	chr13:91179100-91179101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9523009	chr13:91179110-91179111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547234165	chr13:91179141-91179142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573020327	chr13:91179159-91179160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540542774	chr13:91179211-91179212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375528452	chr13:91179213-91179214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542572795	chr13:91179341-91179342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544456832	chr13:91179369-91179370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562383274	chr13:91179433-91179434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75721436	chr13:91179481-91179482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527950037	chr13:91179495-91179496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569446817	chr13:91179511-91179512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369470316	chr13:91179516-91179517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528972293	chr13:91179517-91179518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533005085	chr13:91179564-91179565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191971062	chr13:91179606-91179607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549654833	chr13:91179633-91179634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373272334	chr13:91179647-91179648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184232221	chr13:91179657-91179658	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs1159752	chr13:91179668-91179669	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550765493	chr13:91179699-91179700	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs568969992	chr13:91179708-91179709	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs559854574	chr13:91179711-91179712	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536362713	chr13:91179846-91179847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117920998	chr13:91179985-91179986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191799350	chr13:91185008-91185009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548153067	chr13:91185016-91185017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570330188	chr13:91185051-91185052	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs545048990	chr13:91185101-91185102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575745050	chr13:91185151-91185152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148056916	chr13:91185159-91185160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376234027	chr13:91185240-91185241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7139835	chr13:91185256-91185257	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542425593	chr13:91185292-91185293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561158414	chr13:91185295-91185296	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78980994	chr13:91185319-91185320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7317366	chr13:91185320-91185321	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565014659	chr13:91185322-91185323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113644731	chr13:91185336-91185337	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7321992	chr13:91185347-91185348	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Small bowel adenocarcinoma	21586687	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
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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91178800-91180000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr13:91179000-91179800	Enhancers	Primary hematopoietic stem cells	blood
3	chr13:91179000-91179800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:91179000-91180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:91185000-91185400	Active TSS	HSMMtube	muscle
6	chr13:91185400-91185600	Flanking Active TSS	HSMMtube	muscle
7	chr13:91185600-91185800	Enhancers	HSMMtube	muscle
8	chr13:91185800-91186200	Weak transcription	HSMMtube	muscle
9	chr13:91186000-91186400	Enhancers	Fetal Muscle Leg	muscle
10	chr13:91186000-91188200	Enhancers	HSMM	muscle
11	chr13:91186200-91186600	Enhancers	HSMMtube	muscle
12	chr13:91186200-91187600	Enhancers	Fetal Heart	heart
13	chr13:91186400-91186800	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:91186600-91187400	Flanking Active TSS	HSMMtube	muscle
15	chr13:91186800-91188000	Enhancers	Fetal Brain Male	brain
16	chr13:91186800-91188000	Enhancers	Fetal Muscle Leg	muscle
17	chr13:91187000-91187400	Enhancers	Brain Germinal Matrix	brain
18	chr13:91187000-91188000	Enhancers	NHDF-Ad	bronchial
19	chr13:91187200-91188000	Enhancers	Left Ventricle	heart
20	chr13:91187400-91188400	Enhancers	HSMMtube	muscle
21	chr13:91190600-91190800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:91196400-91199400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:91197000-91199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:91197400-91197800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:91197400-91197800	Enhancers	Esophagus	oesophagus
26	chr13:91197400-91198200	Enhancers	Left Ventricle	heart
27	chr13:91197600-91198200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:91197800-91198200	Enhancers	Right Atrium	heart
29	chr13:91199400-91200000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:91199800-91200400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:91200400-91201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:91203400-91203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:91203800-91205000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:91205000-91205400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:91205000-91205600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:91205000-91205600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:91205000-91205600	Enhancers	Fetal Brain Male	brain
38	chr13:91205000-91205600	Enhancers	Fetal Brain Female	brain
39	chr13:91205000-91205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:91205200-91205600	Enhancers	NHEK	skin
41	chr13:91205400-91205800	Enhancers	Fetal Lung	lung
42	chr13:91210400-91210800	Enhancers	Fetal Brain Male	brain
43	chr13:91214600-91215000	Enhancers	HSMMtube	muscle
44	chr13:91214600-91215200	Enhancers	HSMM	muscle
45	chr13:91214800-91215000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:91217800-91218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:91217800-91218600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr13:91217800-91218600	Enhancers	Primary hematopoietic stem cells	blood
49	chr13:91217800-91218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:91218200-91218600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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