Variant report

Variant	nsv874991
Chromosome Location	chr2:125692490-125901811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:125844106-125844811	HepG2	liver:	n/a	n/a
2	ATF1	chr2:125888177-125888328	K562	blood:	n/a	n/a
3	BACH1	chr2:125754003-125754262	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:125753106-125753486	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr2:125696854-125697047	GM12878	blood:	n/a	chr2:125696955-125696966
6	BHLHE40	chr2:125812815-125812921	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:125850247-125850413	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:125808042-125808094	GM12878	blood:	n/a	n/a
9	CBX3	chr2:125831075-125831341	K562	blood:	n/a	n/a
10	CBX3	chr2:125831065-125831339	K562	blood:	n/a	n/a
11	CEBPB	chr2:125745841-125746043	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:125770990-125771224	HepG2	liver:	n/a	chr2:125771077-125771088
13	CEBPB	chr2:125694622-125694674	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:125717203-125717484	IMR90	lung:	n/a	chr2:125717336-125717347
15	CEBPB	chr2:125732958-125733580	IMR90	lung:	n/a	chr2:125733432-125733445
16	CEBPB	chr2:125864367-125864644	A549	lung:	n/a	chr2:125864501-125864512
17	CEBPB	chr2:125717290-125717473	H1-hESC	embryonic stem cell:	n/a	chr2:125717336-125717347
18	CEBPB	chr2:125844162-125844433	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:125783926-125783935	A549	lung:	n/a	n/a
20	CEBPB	chr2:125717231-125717496	HepG2	liver:	n/a	chr2:125717336-125717347
21	CEBPB	chr2:125774805-125775027	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:125864339-125864658	HepG2	liver:	n/a	chr2:125864501-125864512
23	CEBPB	chr2:125745758-125745958	K562	blood:	n/a	n/a
24	CEBPB	chr2:125844175-125844507	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:125745809-125745988	A549	lung:	n/a	n/a
26	CEBPB	chr2:125844143-125844695	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:125732942-125733566	H1-hESC	embryonic stem cell:	n/a	chr2:125733432-125733445
28	CEBPB	chr2:125864353-125864657	IMR90	lung:	n/a	chr2:125864501-125864512
29	CEBPB	chr2:125799595-125799759	HepG2	liver:	n/a	chr2:125799668-125799681 chr2:125799668-125799679 chr2:125799669-125799680
30	CHD2	chr2:125754089-125754396	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:125754860-125755010	RPTEC	kidney:	n/a	n/a
32	CTCF	chr2:125754860-125755010	HRE	kidney:	n/a	n/a
33	CTCF	chr2:125754860-125755010	HEK293	kidney:	n/a	n/a
34	CTCF	chr2:125772000-125772150	AG10803	skin:	n/a	n/a
35	CTCF	chr2:125754860-125755010	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr2:125783160-125783310	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr2:125706968-125707007	HepG2	liver:	n/a	n/a
38	CTCF	chr2:125796120-125796185	GM20000	blood:	n/a	n/a
39	CTCF	chr2:125732820-125732970	Caco-2	colon:	n/a	n/a
40	CTCF	chr2:125706961-125706965	HepG2	liver:	n/a	n/a
41	CTCF	chr2:125796433-125796577	GM12878	blood:	n/a	n/a
42	CTCF	chr2:125734253-125734258	K562	blood:	n/a	n/a
43	CTCF	chr2:125754820-125754970	HRE	kidney:	n/a	n/a
44	CTCF	chr2:125732900-125733050	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr2:125768040-125768190	GM12865	blood:	n/a	n/a
46	CTCF	chr2:125749986-125750048	GM10248	blood:	n/a	n/a
47	CTCF	chr2:125741500-125741650	BJ	skin:	n/a	n/a
48	CTCF	chr2:125754900-125755050	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:125759480-125759630	HepG2	liver:	n/a	n/a
50	CTCF	chr2:125754840-125754990	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:125755746-125755796	IMR90	lung:	fetal
2	chr2:125744982-125745032	PrEC	prostate:	n/a
3	chr2:125733618-125733668	PFSK-1	brain:	n/a
4	chr2:125744982-125745032	NHDF-neo	bronchial:	n/a
5	chr2:125744982-125745032	HepG2	liver:	n/a
6	chr2:125733618-125733668	ovcar-3	ovarian:	n/a
7	chr2:125733618-125733668	SKMC	muscle:	n/a
8	chr2:125744982-125745032	HIPEpiC	eye:	n/a
9	chr2:125744982-125745032	GM12892	blood:	n/a
10	chr2:125755746-125755796	HepG2	liver:	n/a
11	chr2:125733618-125733668	AG04449	skin:	fetal
12	chr2:125733618-125733668	Hepatocyte	liver:	n/a
13	chr2:125733618-125733668	Hela-S3	cervix:	n/a
14	chr2:125744982-125745032	K562	blood:	n/a
15	chr2:125744982-125745032	ECC-1	luminal epithelium:	n/a
16	chr2:125733618-125733668	H1-hESC	embryonic stem cell:	embryo
17	chr2:125744982-125745032	AG04450	lung:	fetal
18	chr2:125744982-125745032	AG09309	skin:	n/a
19	chr2:125744982-125745032	RPTEC	kidney:	n/a
20	chr2:125733618-125733668	IMR90	lung:	fetal
21	chr2:125755746-125755796	HRPEpiC	eye:	n/a
22	chr2:125744982-125745032	HEEpiC	esophagus:	n/a
23	chr2:125744982-125745032	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:125733618-125733668	Caco-2	colon:	n/a
25	chr2:125755746-125755796	PANC-1	pancreas:	n/a
26	chr2:125755746-125755796	ProgFib	skin:	n/a
27	chr2:125744982-125745032	MCF10A-Er-Src	breast:	n/a
28	chr2:125755746-125755796	Caco-2	colon:	n/a
29	chr2:125733618-125733668	SK-N-MC	brain:	n/a
30	chr2:125733618-125733668	HUVEC	blood vessel:	n/a
31	chr2:125733618-125733668	NH-A	brain:	n/a
32	chr2:125733618-125733668	GM12891	blood:	n/a
33	chr2:125744982-125745032	AG09319	gingival:	n/a
34	chr2:125744982-125745032	HNPCEpiC	eye:	n/a
35	chr2:125733618-125733668	K562	blood:	n/a
36	chr2:125733618-125733668	HCM	heart:	n/a
37	chr2:125744982-125745032	HRE	kidney:	n/a
38	chr2:125733618-125733668	GM19239	blood:	n/a
39	chr2:125744982-125745032	NHBE	bronchial:	n/a
40	chr2:125755746-125755796	HL-60	blood:	n/a
41	chr2:125755746-125755796	MCF-7	breast:	n/a
42	chr2:125733618-125733668	HIPEpiC	eye:	n/a
43	chr2:125733618-125733668	GM12892	blood:	n/a
44	chr2:125744982-125745032	BJ	skin:	n/a
45	chr2:125744982-125745032	MCF-7	breast:	n/a
46	chr2:125733618-125733668	CMK	blood:	n/a
47	chr2:125733618-125733668	Jurkat	blood:	n/a
48	chr2:125733618-125733668	HEK293	kidney:	embryo
49	chr2:125744982-125745032	SKMC	muscle:	n/a
50	chr2:125733618-125733668	MCF-7	breast:	n/a

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000201853	TF binding region
RNU6-259P	TF binding region
ENSG00000201853	CpG island
RNU6-259P	CpG island
ENSG00000065911	chromatin interactions

Extended variants
information (count: 2478 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2478 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527616196	chr2:125710203-125710204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547652019	chr2:125710212-125710213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570370113	chr2:125710214-125710215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539392370	chr2:125710223-125710224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371230340	chr2:125710248-125710249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189736813	chr2:125710305-125710306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145533835	chr2:125710318-125710319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535791217	chr2:125710333-125710334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116338106	chr2:125710382-125710383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142534755	chr2:125710401-125710402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555588142	chr2:125710412-125710413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572284365	chr2:125710420-125710421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562466043	chr2:125710452-125710453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182729016	chr2:125710453-125710454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146827487	chr2:125710466-125710467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543758261	chr2:125710475-125710476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1361439	chr2:125710516-125710517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574229875	chr2:125710555-125710556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543120723	chr2:125710575-125710576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80126267	chr2:125710584-125710585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374927444	chr2:125710626-125710627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547398919	chr2:125710727-125710728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534921108	chr2:125710728-125710729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142014151	chr2:125710736-125710737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558308969	chr2:125710737-125710738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185539368	chr2:125710753-125710754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532801705	chr2:125710760-125710761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577847483	chr2:125710775-125710776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72965866	chr2:125710822-125710823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs569307473	chr2:125710828-125710829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190644019	chr2:125710836-125710837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183651218	chr2:125710868-125710869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548653160	chr2:125710878-125710879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188930095	chr2:125710918-125710919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566163750	chr2:125710948-125710949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36042120	chr2:125711037-125711038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147952053	chr2:125711080-125711081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558177330	chr2:125711090-125711091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193235549	chr2:125711105-125711106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182669097	chr2:125711115-125711116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543534483	chr2:125711149-125711150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561467276	chr2:125711150-125711151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368499240	chr2:125711278-125711279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1832670	chr2:125711284-125711285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543157102	chr2:125711286-125711287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559860090	chr2:125711313-125711314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187940905	chr2:125711334-125711335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75028785	chr2:125711351-125711352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147028480	chr2:125711363-125711364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375776014	chr2:125711365-125711366	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	22037309	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125710200-125712200	Enhancers	Brain Hippocampus Middle	brain
2	chr2:125710200-125712200	Enhancers	Brain Substantia Nigra	brain
3	chr2:125710400-125711200	Enhancers	Brain Anterior Caudate	brain
4	chr2:125710600-125711400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:125710800-125711400	Enhancers	Brain Angular Gyrus	brain
6	chr2:125711000-125711400	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:125711000-125711400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:125711200-125712000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:125724000-125725800	Enhancers	Brain Anterior Caudate	brain
10	chr2:125724000-125725800	Enhancers	Brain Substantia Nigra	brain
11	chr2:125724800-125725800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:125725200-125725400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:125725200-125725400	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:125725400-125725600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:125725400-125725600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:125725400-125726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:125725600-125726600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:125725600-125726600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:125725600-125726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:125725800-125726200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:125725800-125726200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:125725800-125727600	Weak transcription	Brain Anterior Caudate	brain
23	chr2:125726200-125727400	Enhancers	Brain Hippocampus Middle	brain
24	chr2:125726200-125727600	Enhancers	Brain Substantia Nigra	brain
25	chr2:125726400-125729400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:125726600-125727400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:125726600-125727600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:125726600-125728200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:125727200-125728000	Enhancers	Brain Germinal Matrix	brain
30	chr2:125727200-125728200	Enhancers	Brain Angular Gyrus	brain
31	chr2:125727400-125728000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:125727400-125728200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:125727400-125728200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:125727600-125727800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr2:125727600-125728200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:125727600-125728200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr2:125727800-125728000	Active TSS	Brain Anterior Caudate	brain
38	chr2:125728000-125732800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:125728200-125728400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:125728200-125729000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:125728200-125732600	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:125728200-125732600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:125728400-125732600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:125729000-125732800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:125732600-125733200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:125732600-125733400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:125732600-125733400	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:125732600-125733600	Enhancers	Brain Substantia Nigra	brain
49	chr2:125732600-125733800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:125732800-125733400	Enhancers	HUES48 Cell Line	embryonic stem cell

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