Variant report

Variant	nsv834361
Chromosome Location	chr2:125601081-125810992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:245)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:125634613-125635055	GM12878	blood:	n/a	n/a
2	ATF2	chr2:125633218-125633790	GM12878	blood:	n/a	n/a
3	ATF2	chr2:125633154-125633706	GM12878	blood:	n/a	n/a
4	BACH1	chr2:125753106-125753486	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:125754003-125754262	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:125633266-125633781	GM12878	blood:	n/a	n/a
7	BATF	chr2:125696854-125697047	GM12878	blood:	n/a	chr2:125696955-125696966
8	BATF	chr2:125633232-125633697	GM12878	blood:	n/a	n/a
9	BCL3	chr2:125633179-125633701	GM12878	blood:	n/a	chr2:125633412-125633421
10	BHLHE40	chr2:125633320-125633688	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:125634865-125634926	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:125626358-125626375	HepG2	liver:	n/a	n/a
13	BHLHE40	chr2:125808042-125808094	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:125637611-125637627	GM12878	blood:	n/a	n/a
15	CEBPB	chr2:125634595-125635187	GM12878	blood:	n/a	n/a
16	CEBPB	chr2:125745758-125745958	K562	blood:	n/a	n/a
17	CEBPB	chr2:125659554-125659842	IMR90	lung:	n/a	chr2:125659676-125659687
18	CEBPB	chr2:125683927-125684196	IMR90	lung:	n/a	chr2:125684042-125684053
19	CEBPB	chr2:125732958-125733580	IMR90	lung:	n/a	chr2:125733432-125733445
20	CEBPB	chr2:125656586-125656793	HepG2	liver:	n/a	chr2:125656712-125656723
21	CEBPB	chr2:125745809-125745988	A549	lung:	n/a	n/a
22	CEBPB	chr2:125634578-125635136	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:125694622-125694674	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr2:125717203-125717484	IMR90	lung:	n/a	chr2:125717336-125717347
25	CEBPB	chr2:125717290-125717473	H1-hESC	embryonic stem cell:	n/a	chr2:125717336-125717347
26	CEBPB	chr2:125745841-125746043	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:125633134-125633879	GM12878	blood:	n/a	n/a
28	CEBPB	chr2:125659542-125659840	HepG2	liver:	n/a	chr2:125659676-125659687
29	CEBPB	chr2:125799595-125799759	HepG2	liver:	n/a	chr2:125799668-125799681 chr2:125799668-125799679 chr2:125799669-125799680
30	CEBPB	chr2:125717231-125717496	HepG2	liver:	n/a	chr2:125717336-125717347
31	CEBPB	chr2:125783926-125783935	A549	lung:	n/a	n/a
32	CEBPB	chr2:125774805-125775027	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:125683882-125684205	HepG2	liver:	n/a	chr2:125684042-125684053
34	CEBPB	chr2:125770990-125771224	HepG2	liver:	n/a	chr2:125771077-125771088
35	CEBPB	chr2:125732942-125733566	H1-hESC	embryonic stem cell:	n/a	chr2:125733432-125733445
36	CHD2	chr2:125754089-125754396	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr2:125633361-125633518	GM12878	blood:	n/a	n/a
38	CREB1	chr2:125634593-125635213	GM12878	blood:	n/a	n/a
39	CREB1	chr2:125633180-125633843	GM12878	blood:	n/a	n/a
40	CTCF	chr2:125673260-125673410	GM12873	blood:	n/a	n/a
41	CTCF	chr2:125706968-125707007	HepG2	liver:	n/a	n/a
42	CTCF	chr2:125673240-125673390	GM06990	blood:	n/a	n/a
43	CTCF	chr2:125673163-125673523	GM12878	blood:	n/a	n/a
44	CTCF	chr2:125640338-125640428	GM20000	blood:	n/a	n/a
45	CTCF	chr2:125673248-125673425	GM12878	blood:	n/a	n/a
46	CTCF	chr2:125706961-125706965	HepG2	liver:	n/a	n/a
47	CTCF	chr2:125754880-125755030	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr2:125732900-125733050	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr2:125754860-125755010	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr2:125673240-125673390	RPTEC	kidney:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:125733618-125733668	NHDF-neo	bronchial:	n/a
2	chr2:125733618-125733668	NHDF-neo	bronchial:	n/a
3	chr2:125733618-125733668	HMEC	breast:	n/a
4	chr2:125744982-125745032	T-47D	breast:	n/a
5	chr2:125755746-125755796	SK-N-SH	brain:	n/a
6	chr2:125744982-125745032	IMR90	lung:	fetal
7	chr2:125744982-125745032	A549	lung:	n/a
8	chr2:125755746-125755796	PrEC	prostate:	n/a
9	chr2:125672110-125672160	SK-N-MC	brain:	n/a
10	chr2:125755746-125755796	ECC-1	luminal epithelium:	n/a
11	chr2:125755746-125755796	GM12892	blood:	n/a
12	chr2:125733618-125733668	SAEC	small airway:	n/a
13	chr2:125755746-125755796	PANC-1	pancreas:	n/a
14	chr2:125755746-125755796	AG04449	skin:	fetal
15	chr2:125744982-125745032	AG09309	skin:	n/a
16	chr2:125672110-125672160	HAEpiC	amniotic membrane:	n/a
17	chr2:125744982-125745032	HCF	heart:	n/a
18	chr2:125733618-125733668	H1-hESC	embryonic stem cell:	embryo
19	chr2:125744982-125745032	ECC-1	luminal epithelium:	n/a
20	chr2:125733618-125733668	HepG2	liver:	n/a
21	chr2:125744982-125745032	ovcar-3	ovarian:	n/a
22	chr2:125672110-125672160	AG09309	skin:	n/a
23	chr2:125733618-125733668	SK-N-MC	brain:	n/a
24	chr2:125672110-125672160	GM12878	blood:	n/a
25	chr2:125755746-125755796	HCT-116	colon:	n/a
26	chr2:125672110-125672160	SKMC	muscle:	n/a
27	chr2:125733618-125733668	CMK	blood:	n/a
28	chr2:125744982-125745032	NT2-D1	testis:	n/a
29	chr2:125672110-125672160	HL-60	blood:	n/a
30	chr2:125744982-125745032	HEEpiC	esophagus:	n/a
31	chr2:125672110-125672160	HMEC	breast:	n/a
32	chr2:125672110-125672160	RPTEC	kidney:	n/a
33	chr2:125672110-125672160	LNCaP	prostate:	n/a
34	chr2:125672110-125672160	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:125744982-125745032	AG09319	gingival:	n/a
36	chr2:125755746-125755796	Hela-S3	cervix:	n/a
37	chr2:125733618-125733668	SK-N-SH_RA	brain:	n/a
38	chr2:125733618-125733668	MCF-7	breast:	n/a
39	chr2:125672110-125672160	SK-N-SH	brain:	n/a
40	chr2:125733618-125733668	Caco-2	colon:	n/a
41	chr2:125744982-125745032	LNCaP	prostate:	n/a
42	chr2:125672110-125672160	GM12891	blood:	n/a
43	chr2:125733618-125733668	MCF10A-Er-Src	breast:	n/a
44	chr2:125755746-125755796	AoSMC	blood vessel:	n/a
45	chr2:125755746-125755796	HRCEpiC	kidney:	n/a
46	chr2:125672110-125672160	ECC-1	luminal epithelium:	n/a
47	chr2:125755746-125755796	Caco-2	colon:	n/a
48	chr2:125733618-125733668	LNCaP	prostate:	n/a
49	chr2:125744982-125745032	Hepatocyte	liver:	n/a
50	chr2:125755746-125755796	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr2:125735230..125736960-chr2:125740457..125742933,2	K562	blood:
2	chr2:74425603..74426160-chr2:125806796..125807296,2	HCT-116	colon:
3	chr2:125705373..125708203-chr2:125710447..125715491,4	K562	blood:
4	chr2:125735230..125736960-chr2:125740457..125742933,2	K562	blood:
5	chr2:125776450..125778632-chr2:125778816..125781733,2	K562	blood:
6	chr2:125776450..125778632-chr2:125778816..125781733,2	K562	blood:
7	chr2:125684432..125687307-chr20:58712378..58715076,2	MCF-7	breast:
8	chr2:125705373..125708203-chr2:125710447..125715491,4	K562	blood:
9	chr2:125705685..125707708-chr2:125713152..125715491,2	K562	blood:
10	chr2:125705685..125707708-chr2:125713152..125715491,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP102	TF binding region
RNU6-259P	TF binding region
RNA5SP102	CpG island
RNU6-259P	CpG island
ENSG00000065911	chromatin interactions
ENSG00000228340	chromatin interactions

Extended variants
information (count: 2771 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575026512	chr2:125604838-125604839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545595505	chr2:125604840-125604841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540971926	chr2:125604894-125604895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554169482	chr2:125604901-125604902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565292072	chr2:125604905-125604906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533130488	chr2:125619816-125619817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549601842	chr2:125619863-125619864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200131425	chr2:125619871-125619872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367595998	chr2:125619889-125619890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529104169	chr2:125619899-125619900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576241335	chr2:125619952-125619953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565633919	chr2:125619958-125619959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191452187	chr2:125619962-125619963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183614178	chr2:125619979-125619980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571287933	chr2:125620031-125620032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370308770	chr2:125620069-125620070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537641072	chr2:125620090-125620091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557634130	chr2:125620094-125620095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574288934	chr2:125620116-125620117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188559189	chr2:125620117-125620118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553719401	chr2:125620160-125620161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139749031	chr2:125620168-125620169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377651359	chr2:125620172-125620173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181059674	chr2:125620179-125620180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575692404	chr2:125620262-125620263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577959245	chr2:125620263-125620264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543211841	chr2:125620264-125620265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563101305	chr2:125620274-125620275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144524104	chr2:125620304-125620305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548835245	chr2:125620321-125620322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60413051	chr2:125620386-125620387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543645496	chr2:125620402-125620403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528073938	chr2:125620424-125620425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551130670	chr2:125620425-125620426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571315031	chr2:125620509-125620510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376296948	chr2:125620516-125620517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187033854	chr2:125620517-125620518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557152866	chr2:125620534-125620535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567827016	chr2:125620535-125620536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536860026	chr2:125620566-125620567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553611324	chr2:125620612-125620613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146538859	chr2:125620628-125620629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376153356	chr2:125620640-125620641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539016086	chr2:125620689-125620690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558731225	chr2:125620759-125620760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560789986	chr2:125620763-125620764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190096376	chr2:125620774-125620775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544262651	chr2:125620778-125620779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576625408	chr2:125620785-125620786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554662487	chr2:125620794-125620795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125604800-125605000	Enhancers	Gastric	stomach
2	chr2:125619800-125620800	Enhancers	Fetal Lung	lung
3	chr2:125622000-125622600	Enhancers	Fetal Heart	heart
4	chr2:125629000-125629200	Enhancers	Gastric	stomach
5	chr2:125629200-125637000	Weak transcription	Gastric	stomach
6	chr2:125631200-125631400	Enhancers	Stomach Mucosa	stomach
7	chr2:125631400-125632400	Weak transcription	Stomach Mucosa	stomach
8	chr2:125631600-125631800	Enhancers	Fetal Lung	lung
9	chr2:125632000-125635000	Weak transcription	Fetal Lung	lung
10	chr2:125632400-125633200	Enhancers	Stomach Mucosa	stomach
11	chr2:125633200-125638800	Weak transcription	Stomach Mucosa	stomach
12	chr2:125633800-125634600	Enhancers	GM12878-XiMat	blood
13	chr2:125633800-125635800	Enhancers	Fetal Heart	heart
14	chr2:125634000-125634200	Enhancers	NH-A	brain
15	chr2:125634200-125635000	Weak transcription	NH-A	brain
16	chr2:125635000-125635200	Enhancers	Fetal Lung	lung
17	chr2:125635000-125635800	Enhancers	NH-A	brain
18	chr2:125635200-125635800	Weak transcription	Fetal Lung	lung
19	chr2:125635800-125636000	Enhancers	Fetal Lung	lung
20	chr2:125635800-125638400	Weak transcription	Fetal Heart	heart
21	chr2:125636000-125641600	Weak transcription	Fetal Lung	lung
22	chr2:125637000-125637200	Enhancers	Gastric	stomach
23	chr2:125637000-125637600	Enhancers	Pancreas	Pancrea
24	chr2:125637200-125637600	Enhancers	Liver	Liver
25	chr2:125637200-125639400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:125637600-125638800	Weak transcription	Pancreas	Pancrea
27	chr2:125638400-125638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:125638400-125639000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:125638400-125639000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:125638400-125639200	Enhancers	Fetal Heart	heart
31	chr2:125638600-125639000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:125638600-125639200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:125638800-125639000	Enhancers	Pancreas	Pancrea
34	chr2:125638800-125639000	Enhancers	Stomach Mucosa	stomach
35	chr2:125639000-125639400	Weak transcription	Pancreas	Pancrea
36	chr2:125639200-125641600	Weak transcription	Fetal Heart	heart
37	chr2:125639400-125640000	Enhancers	Pancreas	Pancrea
38	chr2:125641400-125642000	ZNF genes & repeats	Fetal Brain Male	brain
39	chr2:125641600-125641800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:125641600-125642000	Enhancers	Fetal Heart	heart
41	chr2:125641600-125642400	Enhancers	Fetal Lung	lung
42	chr2:125641800-125642600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:125642400-125643600	Weak transcription	Fetal Lung	lung
44	chr2:125643600-125644800	Enhancers	Fetal Lung	lung
45	chr2:125647800-125648000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:125655000-125655200	Enhancers	Fetal Lung	lung
47	chr2:125655000-125655400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:125662600-125663400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:125668600-125670000	Enhancers	Brain Hippocampus Middle	brain
50	chr2:125668800-125669800	Enhancers	Brain Substantia Nigra	brain

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