Variant report

Variant	nsv459030
Chromosome Location	chr2:115800609-115834653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:115810827-115811119	HepG2	liver:	n/a	chr2:115810968-115810979
2	CEBPB	chr2:115804769-115805334	HepG2	liver:	n/a	chr2:115805187-115805200
3	CTCF	chr2:115803517-115803589	Fibrobl	skin:	n/a	n/a
4	CTCF	chr2:115803492-115803607	A549	lung:	n/a	n/a
5	CTCF	chr2:115803528-115803596	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:115803496-115803607	GM12892	blood:	n/a	n/a
7	CTCF	chr2:115803494-115803601	Gliobla	brain:	n/a	n/a
8	CTCF	chr2:115815580-115815730	HVMF	connective:	n/a	n/a
9	CTCF	chr2:115803532-115803577	GM12891	blood:	n/a	n/a
10	CTCF	chr2:115803521-115803585	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:115821920-115822070	HepG2	liver:	n/a	n/a
12	E2F4	chr2:115813291-115813449	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:115813236-115813264	MCF10A-Er-Src	breast:	n/a	chr2:115813252-115813260 chr2:115813251-115813261 chr2:115813252-115813259 chr2:115813251-115813260 chr2:115813250-115813262
14	GATA3	chr2:115833817-115834160	SH-SY5Y	brain:	n/a	chr2:115833985-115833992 chr2:115833985-115833994 chr2:115833978-115833999
15	JUN	chr2:115813724-115813768	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr2:115813108-115813440	HepG2	liver:	n/a	chr2:115813252-115813260 chr2:115813251-115813261 chr2:115813250-115813261 chr2:115813252-115813259 chr2:115813251-115813260 chr2:115813250-115813262
17	MAFF	chr2:115815088-115815379	HepG2	liver:	n/a	n/a
18	MAFK	chr2:115815060-115815347	HepG2	liver:	n/a	chr2:115815207-115815224
19	MAFK	chr2:115815055-115815391	HepG2	liver:	n/a	chr2:115815207-115815224
20	MAFK	chr2:115815577-115815583	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr2:115834381-115834540	GM12878	blood:	n/a	n/a
22	MYC	chr2:115817111-115817269	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:115800929-115800976	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:115832700-115832981	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr2:115805246-115805271	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:115822696-115822858	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:115803292-115803474	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:115828212-115828605	MCF10A-Er-Src	breast:	n/a	n/a
29	RCOR1	chr2:115832259-115832290	K562	blood:	n/a	n/a
30	STAT3	chr2:115825661-115825885	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr2:115831179-115831312	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115822184-115822234	HRE	kidney:	n/a
2	chr2:115822184-115822234	HRCEpiC	kidney:	n/a
3	chr2:115822039-115822089	HCM	heart:	n/a
4	chr2:115822184-115822234	NHDF-neo	bronchial:	n/a
5	chr2:115822039-115822089	PFSK-1	brain:	n/a
6	chr2:115822039-115822089	AG04449	skin:	fetal
7	chr2:115822039-115822089	GM12892	blood:	n/a
8	chr2:115822039-115822089	CMK	blood:	n/a
9	chr2:115822184-115822234	SK-N-SH_RA	brain:	n/a
10	chr2:115822184-115822234	BE2_C	brain:	n/a
11	chr2:115822184-115822234	CMK	blood:	n/a
12	chr2:115822184-115822234	Hepatocyte	liver:	n/a
13	chr2:115822184-115822234	HNPCEpiC	eye:	n/a
14	chr2:115822039-115822089	NHBE	bronchial:	n/a
15	chr2:115822184-115822234	AG10803	skin:	n/a
16	chr2:115822039-115822089	HRCEpiC	kidney:	n/a
17	chr2:115822184-115822234	MCF10A-Er-Src	breast:	n/a
18	chr2:115822184-115822234	NH-A	brain:	n/a
19	chr2:115822184-115822234	HCM	heart:	n/a
20	chr2:115822039-115822089	T-47D	breast:	n/a
21	chr2:115822184-115822234	ProgFib	skin:	n/a
22	chr2:115822184-115822234	A549	lung:	n/a
23	chr2:115822039-115822089	NH-A	brain:	n/a
24	chr2:115822039-115822089	HCPEpiC	choroid plexus:	n/a
25	chr2:115822184-115822234	U87	brain:	n/a
26	chr2:115822184-115822234	LNCaP	prostate:	n/a
27	chr2:115822184-115822234	H1-hESC	embryonic stem cell:	embryo
28	chr2:115822039-115822089	GM12878	blood:	n/a
29	chr2:115822039-115822089	AG09319	gingival:	n/a
30	chr2:115822184-115822234	Caco-2	colon:	n/a
31	chr2:115822039-115822089	ProgFib	skin:	n/a
32	chr2:115822184-115822234	GM12891	blood:	n/a
33	chr2:115822184-115822234	NT2-D1	testis:	n/a
34	chr2:115822039-115822089	Caco-2	colon:	n/a
35	chr2:115822184-115822234	PrEC	prostate:	n/a
36	chr2:115822184-115822234	PANC-1	pancreas:	n/a
37	chr2:115822039-115822089	GM06990	blood:	n/a
38	chr2:115822184-115822234	SAEC	small airway:	n/a
39	chr2:115822039-115822089	SK-N-MC	brain:	n/a
40	chr2:115822039-115822089	HL-60	blood:	n/a
41	chr2:115822184-115822234	BJ	skin:	n/a
42	chr2:115822184-115822234	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:115822039-115822089	GM19239	blood:	n/a
44	chr2:115822039-115822089	HEK293	kidney:	embryo
45	chr2:115822184-115822234	HMEC	breast:	n/a
46	chr2:115822039-115822089	ECC-1	luminal epithelium:	n/a
47	chr2:115822039-115822089	NT2-D1	testis:	n/a
48	chr2:115822039-115822089	SK-N-SH_RA	brain:	n/a
49	chr2:115822184-115822234	AoSMC	blood vessel:	n/a
50	chr2:115822039-115822089	LNCaP	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-4	chr2:115822150-115822382	NONHSAT073868
2	lnc-ACTR3-4	chr2:115823125-115823189	NONHSAT073868
3	lnc-ACTR3-4	chr2:115824237-115824395	NONHSAT073868

No data

Variant related genes	Relation type
DPP10	TF binding region
DPP10	CpG island

Extended variants
information (count: 309 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192506409	chr2:115815007-115815008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577828574	chr2:115815075-115815076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6714443	chr2:115815101-115815102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559692990	chr2:115815114-115815115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78456020	chr2:115815121-115815122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549005574	chr2:115815123-115815124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542250904	chr2:115815142-115815143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140872296	chr2:115815143-115815144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531355231	chr2:115815171-115815172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183936238	chr2:115815194-115815195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187721740	chr2:115815195-115815196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150176677	chr2:115815201-115815202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138142937	chr2:115815233-115815234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534804207	chr2:115815253-115815254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535826014	chr2:115815283-115815284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35697760	chr2:115815313-115815314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1848756	chr2:115815341-115815342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557937325	chr2:115815358-115815359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192717232	chr2:115815392-115815393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34694571	chr2:115815393-115815394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184781255	chr2:115815407-115815408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539285489	chr2:115815416-115815417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556310902	chr2:115815435-115815436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577785069	chr2:115815441-115815442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190060037	chr2:115815460-115815461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553636898	chr2:115815476-115815477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200075399	chr2:115815482-115815483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573628158	chr2:115815486-115815487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143884030	chr2:115815507-115815508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371593669	chr2:115815522-115815523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533688388	chr2:115815579-115815580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562387960	chr2:115815586-115815587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36107805	chr2:115815597-115815598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576039294	chr2:115815603-115815604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544795425	chr2:115815643-115815644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35669909	chr2:115815719-115815720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564667000	chr2:115815722-115815723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147259661	chr2:115815748-115815749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547242683	chr2:115815749-115815750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181659183	chr2:115815758-115815759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10164698	chr2:115815761-115815762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549317500	chr2:115815765-115815766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10175592	chr2:115815797-115815798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376554555	chr2:115815819-115815820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184267231	chr2:115815833-115815834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62164505	chr2:115815849-115815850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370812019	chr2:115815852-115815853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556050613	chr2:115815854-115815855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75964159	chr2:115815880-115815881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62164506	chr2:115815882-115815883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115815000-115815400	Enhancers	Dnd41	blood
2	chr2:115815400-115818000	Weak transcription	Right Atrium	heart
3	chr2:115818000-115818200	ZNF genes & repeats	Right Atrium	heart
4	chr2:115818200-115818600	Weak transcription	Right Atrium	heart
5	chr2:115827600-115828200	Enhancers	Brain Germinal Matrix	brain
6	chr2:115828200-115829000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:115829000-115829200	Enhancers	Brain Germinal Matrix	brain
8	chr2:115830000-115832000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:115830200-115830400	Enhancers	Brain Germinal Matrix	brain
10	chr2:115831200-115831600	Enhancers	Rectal Mucosa Donor 29	rectum

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