Variant report

Variant	nsv459019
Chromosome Location	chr2:115495142-115599013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:115512512-115512858	HepG2	liver:	n/a	n/a
2	BACH1	chr2:115503378-115503578	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:115547707-115547846	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:115512412-115512937	A549	lung:	n/a	chr2:115512747-115512756
5	BCL3	chr2:115555063-115555509	A549	lung:	n/a	n/a
6	CEBPB	chr2:115570040-115570205	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:115499857-115500182	A549	lung:	n/a	chr2:115500039-115500050 chr2:115500009-115500020
8	CEBPB	chr2:115567138-115567495	H1-hESC	embryonic stem cell:	n/a	chr2:115567170-115567183 chr2:115567170-115567181 chr2:115567170-115567181
9	CEBPB	chr2:115520694-115520872	HepG2	liver:	n/a	chr2:115520789-115520800
10	CEBPB	chr2:115498414-115498529	A549	lung:	n/a	chr2:115498505-115498518 chr2:115498506-115498517
11	CEBPB	chr2:115499873-115500189	IMR90	lung:	n/a	chr2:115500039-115500050 chr2:115500009-115500020
12	CEBPB	chr2:115499996-115500140	H1-hESC	embryonic stem cell:	n/a	chr2:115500039-115500050 chr2:115500009-115500020
13	CEBPB	chr2:115520607-115520984	HepG2	liver:	n/a	chr2:115520789-115520800
14	CEBPB	chr2:115567169-115567378	HepG2	liver:	n/a	chr2:115567170-115567183 chr2:115567170-115567181 chr2:115567170-115567181
15	CEBPB	chr2:115498354-115498624	HepG2	liver:	n/a	chr2:115498505-115498518 chr2:115498506-115498517
16	CEBPB	chr2:115500687-115500755	A549	lung:	n/a	n/a
17	CEBPB	chr2:115499827-115500195	HepG2	liver:	n/a	chr2:115500039-115500050 chr2:115500009-115500020
18	CEBPB	chr2:115499912-115500177	K562	blood:	n/a	chr2:115500039-115500050 chr2:115500009-115500020
19	CEBPB	chr2:115554865-115555344	A549	lung:	n/a	n/a
20	CEBPB	chr2:115497512-115497543	HepG2	liver:	n/a	chr2:115497519-115497530
21	CEBPB	chr2:115512376-115512679	A549	lung:	n/a	chr2:115512558-115512569 chr2:115512558-115512569 chr2:115512558-115512571
22	CEBPB	chr2:115569971-115570207	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:115564528-115564776	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:115512279-115512915	A549	lung:	n/a	chr2:115512558-115512569 chr2:115512558-115512569 chr2:115512558-115512571
25	CTCF	chr2:115511373-115511456	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr2:115526780-115526930	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr2:115581680-115581830	HepG2	liver:	n/a	n/a
28	CTCF	chr2:115526780-115526930	Caco-2	colon:	n/a	n/a
29	CTCF	chr2:115526784-115527017	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F4	chr2:115500055-115500204	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr2:115591132-115591243	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr2:115526544-115526798	MCF10A-Er-Src	breast:	n/a	n/a
33	ELF1	chr2:115512578-115512878	A549	lung:	n/a	chr2:115512742-115512753
34	EP300	chr2:115512375-115512990	A549	lung:	n/a	chr2:115512860-115512870 chr2:115512556-115512570 chr2:115512410-115512424
35	EP300	chr2:115512426-115512917	HepG2	liver:	n/a	chr2:115512860-115512870 chr2:115512556-115512570
36	EP300	chr2:115513019-115513370	T-47D	breast:	n/a	chr2:115513150-115513160
37	EP300	chr2:115554843-115555946	A549	lung:	n/a	n/a
38	EP300	chr2:115554855-115555841	A549	lung:	n/a	n/a
39	EP300	chr2:115520559-115520819	HepG2	liver:	n/a	n/a
40	FAM48A	chr2:115500762-115500962	GM12878	blood:	n/a	n/a
41	FOS	chr2:115579364-115579543	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:115579246-115579578	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:115579278-115579562	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:115512469-115512806	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:115512476-115512811	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:115499936-115500110	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:115512489-115512847	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:115579262-115579566	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:115512509-115512763	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:115569797-115570068	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115598354-115598404	NHBE	bronchial:	n/a
2	chr2:115526766-115526816	PrEC	prostate:	n/a
3	chr2:115598354-115598404	LNCaP	prostate:	n/a
4	chr2:115526766-115526816	NHDF-neo	bronchial:	n/a
5	chr2:115526766-115526816	H1-hESC	embryonic stem cell:	embryo
6	chr2:115567258-115567308	K562	blood:	n/a
7	chr2:115526766-115526816	HRCEpiC	kidney:	n/a
8	chr2:115598354-115598404	ovcar-3	ovarian:	n/a
9	chr2:115567258-115567308	GM12878	blood:	n/a
10	chr2:115567258-115567308	U87	brain:	n/a
11	chr2:115567258-115567308	T-47D	breast:	n/a
12	chr2:115567258-115567308	HCF	heart:	n/a
13	chr2:115526766-115526816	AG09309	skin:	n/a
14	chr2:115567258-115567308	AG04450	lung:	fetal
15	chr2:115567258-115567308	AG10803	skin:	n/a
16	chr2:115598354-115598404	A549	lung:	n/a
17	chr2:115526766-115526816	NB4	blood:	n/a
18	chr2:115526766-115526816	CMK	blood:	n/a
19	chr2:115526766-115526816	HL-60	blood:	n/a
20	chr2:115526766-115526816	HUVEC	blood vessel:	n/a
21	chr2:115567258-115567308	GM12892	blood:	n/a
22	chr2:115526766-115526816	GM06990	blood:	n/a
23	chr2:115567258-115567308	CMK	blood:	n/a
24	chr2:115567258-115567308	NHDF-neo	bronchial:	n/a
25	chr2:115567258-115567308	ovcar-3	ovarian:	n/a
26	chr2:115526766-115526816	HIPEpiC	eye:	n/a
27	chr2:115526766-115526816	HepG2	liver:	n/a
28	chr2:115567258-115567308	GM12891	blood:	n/a
29	chr2:115598354-115598404	HepG2	liver:	n/a
30	chr2:115598354-115598404	Hepatocyte	liver:	n/a
31	chr2:115598354-115598404	GM19239	blood:	n/a
32	chr2:115598354-115598404	GM06990	blood:	n/a
33	chr2:115526766-115526816	ovcar-3	ovarian:	n/a
34	chr2:115567258-115567308	Hela-S3	cervix:	n/a
35	chr2:115567258-115567308	HNPCEpiC	eye:	n/a
36	chr2:115598354-115598404	NHDF-neo	bronchial:	n/a
37	chr2:115567258-115567308	PANC-1	pancreas:	n/a
38	chr2:115526766-115526816	HRE	kidney:	n/a
39	chr2:115567258-115567308	Jurkat	blood:	n/a
40	chr2:115598354-115598404	HNPCEpiC	eye:	n/a
41	chr2:115598354-115598404	T-47D	breast:	n/a
42	chr2:115567258-115567308	HRPEpiC	eye:	n/a
43	chr2:115598354-115598404	SK-N-MC	brain:	n/a
44	chr2:115598354-115598404	SK-N-SH_RA	brain:	n/a
45	chr2:115567258-115567308	AoSMC	blood vessel:	n/a
46	chr2:115598354-115598404	Caco-2	colon:	n/a
47	chr2:115526766-115526816	HEK293	kidney:	embryo
48	chr2:115526766-115526816	HNPCEpiC	eye:	n/a
49	chr2:115598354-115598404	BE2_C	brain:	n/a
50	chr2:115567258-115567308	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:115508836..115511567-chr2:115514071..115516240,2	K562	blood:
2	chr2:115498492..115501139-chr2:115501419..115503090,2	MCF-7	breast:
3	chr2:115581416..115582396-chr8:144065517..144066140,2	MCF-7	breast:
4	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:
5	chr2:115498492..115501139-chr2:115501419..115503090,2	MCF-7	breast:
6	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:
7	chr2:115508836..115511567-chr2:115514071..115516240,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-7	chr2:115586009-115586449	ENSG00000231538.1
2	lnc-SLC35F5-8	chr2:115591407-115591615	ENSG00000235717.1
3	lnc-SLC35F5-8	chr2:115592751-115593165	ENSG00000235717.1
4	lnc-SLC35F5-7	chr2:115590902-115591125	ENSG00000231538.1

Variant related genes	Relation type
DPP10-AS3	TF binding region
DPP10-AS2	TF binding region
DPP10-AS3	CpG island
DPP10-AS2	CpG island

Extended variants
information (count: 2117 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2117 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559464452	chr2:115503226-115503227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149259827	chr2:115503271-115503272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114321894	chr2:115503272-115503273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368932303	chr2:115503336-115503337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144497484	chr2:115503346-115503347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544062105	chr2:115503423-115503424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372686303	chr2:115503441-115503442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78507906	chr2:115503442-115503443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540812579	chr2:115503449-115503450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529260581	chr2:115503452-115503453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183522909	chr2:115503457-115503458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543031400	chr2:115503461-115503462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528931892	chr2:115503469-115503470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143644694	chr2:115503542-115503543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562158341	chr2:115503648-115503649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559930371	chr2:115503652-115503653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551392341	chr2:115503719-115503720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372920969	chr2:115503721-115503722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188479654	chr2:115503733-115503734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534854914	chr2:115503748-115503749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527536533	chr2:115503750-115503751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547556949	chr2:115503766-115503767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566999538	chr2:115503803-115503804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535976414	chr2:115503809-115503810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528571955	chr2:115503826-115503827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72830385	chr2:115503836-115503837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538238476	chr2:115503856-115503857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193109121	chr2:115503916-115503917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1898131	chr2:115503945-115503946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578184611	chr2:115503964-115503965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540498347	chr2:115503991-115503992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140608993	chr2:115504110-115504111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184211095	chr2:115504163-115504164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376453696	chr2:115504164-115504165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573858956	chr2:115504179-115504180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72830388	chr2:115510422-115510423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150942376	chr2:115510427-115510428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142021954	chr2:115510429-115510430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553485047	chr2:115510436-115510437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116431549	chr2:115510461-115510462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191064625	chr2:115510465-115510466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562518765	chr2:115510512-115510513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183534264	chr2:115510537-115510538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116192624	chr2:115510549-115510550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545291368	chr2:115510565-115510566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34236668	chr2:115510575-115510576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541265613	chr2:115510596-115510597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7573378	chr2:115510652-115510653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528050656	chr2:115510657-115510658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187871054	chr2:115510682-115510683	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115503200-115503800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:115503200-115504000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:115503200-115504000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:115503200-115504200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:115503400-115503800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:115503400-115503800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:115503400-115504000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:115503400-115504000	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:115503600-115504000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:115503600-115504000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:115510400-115511200	Enhancers	HepG2	liver
12	chr2:115510600-115511200	Enhancers	Liver	Liver
13	chr2:115511600-115512200	Enhancers	Pancreas	Pancrea
14	chr2:115511800-115513400	Enhancers	Stomach Mucosa	stomach
15	chr2:115512200-115512600	Weak transcription	Pancreas	Pancrea
16	chr2:115512600-115513200	Enhancers	Pancreas	Pancrea
17	chr2:115512800-115513000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:115512800-115513200	Enhancers	A549	lung
19	chr2:115513200-115520800	Weak transcription	Pancreas	Pancrea
20	chr2:115519000-115519800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:115519000-115520800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:115519200-115519800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:115519200-115520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:115519200-115521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:115519400-115519600	Enhancers	Left Ventricle	heart
26	chr2:115519400-115520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:115520200-115520800	Enhancers	Brain Angular Gyrus	brain
28	chr2:115520200-115520800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:115520200-115520800	Enhancers	Brain Substantia Nigra	brain
30	chr2:115520200-115521600	Enhancers	Fetal Heart	heart
31	chr2:115520200-115526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:115520800-115521000	Enhancers	Pancreas	Pancrea
33	chr2:115526200-115528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:115526400-115527600	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:115526400-115528200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:115526600-115527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:115526800-115527400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:115527000-115528000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:115527200-115527600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:115527200-115527800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:115527200-115528000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:115527400-115527800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:115538600-115539000	Enhancers	Brain Anterior Caudate	brain
44	chr2:115538600-115539000	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:115538600-115539400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:115538800-115539800	Enhancers	Brain Substantia Nigra	brain
47	chr2:115539000-115539600	Enhancers	Brain Hippocampus Middle	brain
48	chr2:115539000-115539800	Enhancers	Brain Angular Gyrus	brain
49	chr2:115539600-115539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain

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