Variant report

Variant	nsv562720
Chromosome Location	chr13:92419769-92501664
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:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91996442..92000452-chr13:92423521..92427515,3	K562	blood:
2	chr13:91999549..92001296-chr13:92427143..92429211,2	K562	blood:
3	chr13:92349578..92351977-chr13:92437335..92438959,2	K562	blood:
4	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
5	chr13:92001069..92003885-chr13:92432371..92435271,2	K562	blood:
6	chr13:91998535..92001268-chr13:92468179..92469811,2	K562	blood:
7	chr13:92028892..92031114-chr13:92432989..92434969,2	K562	blood:
8	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
9	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:
10	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
11	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
12	chr13:92447696..92448196-chr14:81686779..81687651,2	NB4	blood:
13	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
14	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
15	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
16	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
17	chr13:92008413..92010506-chr13:92466310..92469194,2	K562	blood:
18	chr13:91999497..92001290-chr13:92470942..92473538,2	K562	blood:
19	chr13:92291902..92294855-chr13:92469701..92472559,2	K562	blood:
20	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
21	chr13:92468912..92469761-chr13:92598813..92599378,2	MCF-7	breast:
22	chr13:92058845..92059502-chr13:92434132..92434731,2	MCF-7	breast:
23	chr13:92172090..92174272-chr13:92427047..92429964,2	K562	blood:
24	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:
25	chr13:91998728..92000518-chr13:92437908..92440099,2	K562	blood:
26	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:
27	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
28	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:
29	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
30	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
31	chr13:92338961..92341299-chr13:92468919..92471382,2	K562	blood:
32	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
33	chr13:91998591..92000814-chr13:92420191..92422933,2	K562	blood:
34	chr13:92008654..92011622-chr13:92423601..92425301,2	K562	blood:
35	chr13:92022295..92024727-chr13:92447599..92449200,2	K562	blood:
36	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-4	chr13:92484168-92484579	l_901_chr13:92483239-92484579_testes
2	lnc-GPC6-4	chr13:92483240-92483466	l_901_chr13:92483239-92484579_testes

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions
ENSG00000165417	chromatin interactions

Extended variants
information (count: 1905 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1905 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs342705	chr13:92419769-92419770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540326859	chr13:92419791-92419792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557055108	chr13:92419810-92419811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76012848	chr13:92419816-92419817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560638921	chr13:92419867-92419868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148398397	chr13:92419883-92419884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181601138	chr13:92419893-92419894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375883710	chr13:92419909-92419910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369260517	chr13:92419948-92419949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186727233	chr13:92419983-92419984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190778933	chr13:92419986-92419987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552561819	chr13:92420024-92420025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142584416	chr13:92420031-92420032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150956988	chr13:92420091-92420092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549826962	chr13:92420108-92420109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370458213	chr13:92420124-92420125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569651931	chr13:92420184-92420185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529037184	chr13:92420202-92420203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115173944	chr13:92420209-92420210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532025704	chr13:92420229-92420230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115257795	chr13:92420236-92420237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183305023	chr13:92420292-92420293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573810338	chr13:92420301-92420302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140752051	chr13:92420308-92420309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150143146	chr13:92420324-92420325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186317659	chr13:92420354-92420355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146715720	chr13:92420358-92420359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573689901	chr13:92420361-92420362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9523407	chr13:92420372-92420373	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117389613	chr13:92420374-92420375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573399854	chr13:92420432-92420433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9515967	chr13:92420510-92420511	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565453871	chr13:92420534-92420535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9515968	chr13:92420551-92420552	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566891162	chr13:92420563-92420564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191064597	chr13:92420675-92420676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556957691	chr13:92420737-92420738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182092382	chr13:92420747-92420748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552749768	chr13:92420819-92420820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528849336	chr13:92420835-92420836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188042029	chr13:92420858-92420859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192677298	chr13:92420874-92420875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183404732	chr13:92420879-92420880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566580353	chr13:92420958-92420959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373060271	chr13:92420959-92420960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551314849	chr13:92420960-92420961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs342704	chr13:92420988-92420989	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536990395	chr13:92420989-92420990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12873720	chr13:92421000-92421001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12873824	chr13:92421024-92421025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:92419200-92419800	Enhancers	Fetal Intestine Large	intestine
3	chr13:92419400-92420200	Enhancers	Hela-S3	cervix
4	chr13:92419600-92420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:92419600-92420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:92420200-92421200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:92420200-92423800	Weak transcription	Hela-S3	cervix
8	chr13:92422200-92423000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:92424800-92425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:92425200-92427200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:92425200-92427400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:92425400-92425600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:92425400-92427200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:92425400-92427200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:92425600-92426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:92425600-92427200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:92425800-92427000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:92425800-92427000	Enhancers	Fetal Brain Female	brain
19	chr13:92425800-92427200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:92426000-92426400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:92426000-92427000	Enhancers	Brain Germinal Matrix	brain
22	chr13:92426200-92427000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:92426200-92427200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr13:92426400-92427000	Enhancers	Fetal Brain Male	brain
25	chr13:92426400-92427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:92426400-92427200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:92426600-92427000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:92426600-92427200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:92426600-92427400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr13:92426800-92427000	Enhancers	Brain Anterior Caudate	brain
31	chr13:92426800-92427200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:92427200-92429000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:92428800-92429400	Enhancers	Fetal Intestine Large	intestine
34	chr13:92429000-92429200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:92429000-92429200	Weak transcription	Brain Anterior Caudate	brain
36	chr13:92429200-92431200	Enhancers	Brain Anterior Caudate	brain
37	chr13:92429800-92430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:92430000-92430600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:92430200-92431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:92430600-92431000	Active TSS	Brain Angular Gyrus	brain
41	chr13:92430600-92431000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr13:92438000-92438200	Enhancers	GM12878-XiMat	blood
43	chr13:92438200-92438600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:92442000-92443800	Enhancers	Brain Germinal Matrix	brain
45	chr13:92442600-92443600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr13:92442600-92443600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:92446600-92446800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:92447000-92448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:92447200-92450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:92448200-92448600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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