Variant report

Variant	nsv900842
Chromosome Location	chr13:89529847-89622192
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:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:89528545..89531167-chr13:91999570..92001170,2	K562	blood:
2	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:
3	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-21	chr13:89556163-89556457	l_897_chr13:89556162-89558584_testes
2	lnc-SLITRK6-21	chr13:89558109-89558584	l_897_chr13:89556162-89558584_testes

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 1396 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12854250	chr13:89529847-89529848	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532574183	chr13:89529871-89529872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544885481	chr13:89529895-89529896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563160549	chr13:89529903-89529904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570802011	chr13:89529906-89529907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138927921	chr13:89529937-89529938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566992004	chr13:89529965-89529966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527337947	chr13:89529966-89529967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551987111	chr13:89529983-89529984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112352937	chr13:89530021-89530022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113693552	chr13:89530022-89530023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183176016	chr13:89530034-89530035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537435827	chr13:89530081-89530082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555770737	chr13:89530156-89530157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565288432	chr13:89530163-89530164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187706628	chr13:89530201-89530202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144945230	chr13:89530306-89530307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71444016	chr13:89530321-89530322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113167319	chr13:89530325-89530326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568013217	chr13:89530353-89530354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56185201	chr13:89530422-89530423	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200736118	chr13:89530448-89530449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553892392	chr13:89530476-89530477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572150506	chr13:89530490-89530491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149434501	chr13:89530537-89530538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74957108	chr13:89530538-89530539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552465741	chr13:89530562-89530563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577448282	chr13:89530565-89530566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143863563	chr13:89530579-89530580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536826254	chr13:89530582-89530583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374724307	chr13:89530704-89530705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562916413	chr13:89530744-89530745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148619560	chr13:89530759-89530760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191235077	chr13:89530791-89530792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368291580	chr13:89530805-89530806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142751243	chr13:89530823-89530824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527899149	chr13:89530824-89530825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551819023	chr13:89530934-89530935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563819410	chr13:89530951-89530952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531354575	chr13:89530967-89530968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549359021	chr13:89531017-89531018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147389807	chr13:89531042-89531043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535695092	chr13:89531052-89531053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547398830	chr13:89531148-89531149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35625059	chr13:89538021-89538022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558946298	chr13:89538029-89538030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143770020	chr13:89538044-89538045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16942313	chr13:89538066-89538067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563024362	chr13:89538112-89538113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185642759	chr13:89538247-89538248	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89538000-89538200	Enhancers	Fetal Lung	lung
2	chr13:89538000-89538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:89539200-89539800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:89539400-89539600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:89539400-89539800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:89539600-89539800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:89539600-89539800	Enhancers	HepG2	liver
8	chr13:89539800-89547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:89539800-89547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:89539800-89548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:89547600-89548000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:89547600-89549000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:89547800-89548400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:89548800-89549000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:89548800-89549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:89549000-89549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:89557200-89558000	Enhancers	Dnd41	blood
18	chr13:89558000-89560200	Weak transcription	Dnd41	blood
19	chr13:89560200-89562200	Enhancers	Dnd41	blood
20	chr13:89560200-89562600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:89561000-89561600	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:89561000-89561600	Enhancers	Brain Hippocampus Middle	brain
23	chr13:89561000-89562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:89561000-89562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:89561200-89561600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:89561200-89561600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:89561200-89561600	Enhancers	Brain Angular Gyrus	brain
28	chr13:89561200-89561800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr13:89561200-89561800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:89561200-89561800	Enhancers	Adipose Nuclei	Adipose
31	chr13:89561200-89561800	Enhancers	Fetal Muscle Leg	muscle
32	chr13:89561200-89562000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:89561200-89562000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:89561200-89562000	Enhancers	HMEC	breast
35	chr13:89561200-89562000	Enhancers	NHEK	skin
36	chr13:89561200-89562600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:89571000-89571600	Enhancers	Dnd41	blood
38	chr13:89571400-89571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:89571400-89573000	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:89571600-89572400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr13:89571600-89572400	Flanking Active TSS	Dnd41	blood
42	chr13:89571600-89572400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr13:89571600-89572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:89571600-89573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:89571800-89572400	Enhancers	Primary B cells from cord blood	blood
46	chr13:89571800-89572400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr13:89571800-89572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr13:89571800-89573000	Enhancers	Primary hematopoietic stem cells	blood
49	chr13:89571800-89573000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr13:89572000-89572600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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