Variant report

Variant	nsv456065
Chromosome Location	chr13:92383193-92507887
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:73)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
2	chr13:91999865..92002024-chr13:92412543..92415507,2	K562	blood:
3	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:
4	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
5	chr13:92011474..92014177-chr13:92380431..92383913,3	K562	blood:
6	chr13:91998535..92001268-chr13:92468179..92469811,2	K562	blood:
7	chr13:91998591..92000814-chr13:92420191..92422933,2	K562	blood:
8	chr13:92367826..92370130-chr13:92386601..92389593,3	K562	blood:
9	chr13:92338961..92341299-chr13:92468919..92471382,2	K562	blood:
10	chr13:92143103..92145187-chr13:92412548..92414765,2	K562	blood:
11	chr13:92028892..92031114-chr13:92432989..92434969,2	K562	blood:
12	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
13	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
14	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:
15	chr13:92291902..92294855-chr13:92469701..92472559,2	K562	blood:
16	chr13:92447696..92448196-chr14:81686779..81687651,2	NB4	blood:
17	chr13:92363299..92365110-chr13:92382345..92384889,2	K562	blood:
18	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
19	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:
20	chr13:91999828..92001377-chr13:92382768..92385377,2	K562	blood:
21	chr13:92359085..92361584-chr13:92399636..92402308,3	K562	blood:
22	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
23	chr13:92172090..92174272-chr13:92427047..92429964,2	K562	blood:
24	chr13:91999426..92001246-chr13:92399597..92401347,2	K562	blood:
25	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
26	chr13:92001069..92003885-chr13:92432371..92435271,2	K562	blood:
27	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:
28	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
29	chr13:92414833..92415387-chr21:46409975..46410728,2	Hela-S3	cervix:
30	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
31	chr13:92397745..92400053-chr13:92406336..92408253,2	K562	blood:
32	chr13:91996442..92000452-chr13:92423521..92427515,3	K562	blood:
33	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
34	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:
35	chr13:92392822..92394386-chr13:92398507..92400283,2	K562	blood:
36	chr13:92468912..92469761-chr13:92598813..92599378,2	MCF-7	breast:
37	chr13:91999497..92001290-chr13:92470942..92473538,2	K562	blood:
38	chr13:92383340..92385444-chr13:92386472..92389094,2	K562	blood:
39	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
40	chr13:92387450..92389027-chr13:92396587..92398169,2	K562	blood:
41	chr13:92360463..92365110-chr13:92381034..92383845,4	K562	blood:
42	chr13:91999549..92001296-chr13:92427143..92429211,2	K562	blood:
43	chr13:92397745..92400053-chr13:92406336..92408253,2	K562	blood:
44	chr13:92387450..92389027-chr13:92396587..92398169,2	K562	blood:
45	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
46	chr13:92008654..92011622-chr13:92423601..92425301,2	K562	blood:
47	chr13:92402109..92404912-chr13:92406089..92408172,3	K562	blood:
48	chr13:92008256..92010781-chr13:92387538..92390308,3	K562	blood:
49	chr13:92011474..92015304-chr13:92379938..92384751,4	K562	blood:
50	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-3	chr13:92506911-92506952	NONHSAT034698
2	lnc-GPC6-4	chr13:92484168-92484579	l_901_chr13:92483239-92484579_testes
3	lnc-GPC6-4	chr13:92483240-92483466	l_901_chr13:92483239-92484579_testes

No data

Variant related genes	Relation type
ENSG00000165417	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 3283 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3283 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs342715	chr13:92383193-92383194	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112753677	chr13:92383211-92383212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145132861	chr13:92383220-92383221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143891548	chr13:92383243-92383244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562205569	chr13:92383298-92383299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527747294	chr13:92383299-92383300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541648798	chr13:92383316-92383317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564644674	chr13:92383363-92383364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147303779	chr13:92383381-92383382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531045139	chr13:92383412-92383413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370340589	chr13:92383415-92383416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564002055	chr13:92383477-92383478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549838450	chr13:92383480-92383481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539695863	chr13:92383570-92383571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547740490	chr13:92383604-92383605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559493308	chr13:92383613-92383614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140893537	chr13:92383674-92383675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533612864	chr13:92383686-92383687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547204291	chr13:92383687-92383688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570347047	chr13:92383699-92383700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528255712	chr13:92383724-92383725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs16946647	chr13:92383746-92383747	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143347708	chr13:92383794-92383795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528832473	chr13:92383798-92383799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530870511	chr13:92383805-92383806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184551684	chr13:92383869-92383870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555752908	chr13:92383920-92383921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187837269	chr13:92383943-92383944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549015434	chr13:92383970-92383971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2940577	chr13:92383971-92383972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541505981	chr13:92384008-92384009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111484150	chr13:92384023-92384024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555748286	chr13:92384031-92384032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543983967	chr13:92384080-92384081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111701639	chr13:92384136-92384137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192928322	chr13:92384181-92384182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547802768	chr13:92384193-92384194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs501622	chr13:92384215-92384216	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184991589	chr13:92384219-92384220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571460732	chr13:92384240-92384241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189129415	chr13:92384253-92384254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570523435	chr13:92384259-92384260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192466464	chr13:92384271-92384272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549908157	chr13:92384300-92384301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184830621	chr13:92384307-92384308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372572305	chr13:92384336-92384337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9556113	chr13:92384345-92384346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555818174	chr13:92384473-92384474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572498386	chr13:92384488-92384489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188067642	chr13:92384518-92384519	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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix
2	chr13:92392200-92393400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:92392200-92393400	Enhancers	Brain Germinal Matrix	brain
4	chr13:92393400-92399400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:92394200-92395000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:92396200-92396600	Enhancers	Fetal Heart	heart
7	chr13:92396600-92397000	Flanking Active TSS	Fetal Heart	heart
8	chr13:92397000-92398800	Enhancers	Fetal Heart	heart
9	chr13:92397800-92398600	Enhancers	Fetal Intestine Small	intestine
10	chr13:92398800-92399600	Weak transcription	Fetal Heart	heart
11	chr13:92399400-92400600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:92399600-92399800	Enhancers	Fetal Heart	heart
13	chr13:92399600-92399800	Enhancers	Left Ventricle	heart
14	chr13:92399600-92399800	Enhancers	Right Atrium	heart
15	chr13:92399600-92400000	Enhancers	Brain Hippocampus Middle	brain
16	chr13:92399600-92400200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:92403600-92404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:92403600-92404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:92413200-92413600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:92413200-92413600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:92413200-92414000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:92413200-92414400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:92413400-92413800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:92413400-92414000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr13:92413600-92413800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:92413600-92414000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:92413600-92414000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:92413600-92414200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:92414000-92414200	Enhancers	Fetal Intestine Large	intestine
30	chr13:92414000-92414400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:92414000-92417000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:92414200-92415000	Weak transcription	Fetal Intestine Large	intestine
33	chr13:92414400-92414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:92414800-92415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:92415000-92416000	Enhancers	Fetal Intestine Large	intestine
36	chr13:92416000-92419200	Weak transcription	Fetal Intestine Large	intestine
37	chr13:92417000-92417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:92417200-92418600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:92418200-92418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:92419200-92419800	Enhancers	Fetal Intestine Large	intestine
42	chr13:92419400-92420200	Enhancers	Hela-S3	cervix
43	chr13:92419600-92420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:92419600-92420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:92420200-92421200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:92420200-92423800	Weak transcription	Hela-S3	cervix
47	chr13:92422200-92423000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:92424800-92425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:92425200-92427200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:92425200-92427400	Enhancers	Cortex derived primary cultured neurospheres	brain

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