Variant report

Variant	nsv456396
Chromosome Location	chr2:40154844-40231282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:294)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:40223765-40224372	K562	blood:	n/a	n/a
2	ATF1	chr2:40222613-40222712	K562	blood:	n/a	n/a
3	ATF1	chr2:40217162-40217725	K562	blood:	n/a	n/a
4	BACH1	chr2:40208471-40208655	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr2:40223784-40224393	HCT-116	colon:	n/a	n/a
6	CCNT2	chr2:40224014-40224213	K562	blood:	n/a	n/a
7	CEBPB	chr2:40223859-40224267	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:40223752-40224243	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:40218547-40218785	A549	lung:	n/a	chr2:40218674-40218685
10	CEBPB	chr2:40223679-40224438	HCT-116	colon:	n/a	n/a
11	CEBPB	chr2:40194909-40195167	H1-hESC	embryonic stem cell:	n/a	chr2:40195008-40195019
12	CEBPB	chr2:40218557-40218771	H1-hESC	embryonic stem cell:	n/a	chr2:40218674-40218685
13	CEBPB	chr2:40194850-40195177	HepG2	liver:	n/a	chr2:40195008-40195019
14	CEBPB	chr2:40223865-40224375	HCT-116	colon:	n/a	n/a
15	CEBPB	chr2:40187092-40187228	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:40218494-40218859	IMR90	lung:	n/a	chr2:40218674-40218685
17	CEBPB	chr2:40194890-40195200	A549	lung:	n/a	chr2:40195008-40195019
18	CEBPB	chr2:40194970-40195037	K562	blood:	n/a	chr2:40195008-40195019
19	CEBPB	chr2:40218529-40218785	HepG2	liver:	n/a	chr2:40218674-40218685
20	CEBPB	chr2:40223962-40224177	A549	lung:	n/a	n/a
21	CEBPB	chr2:40221391-40221660	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:40187059-40187300	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:40157413-40157574	IMR90	lung:	n/a	n/a
24	CHD2	chr2:40223919-40224266	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:40191040-40191190	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr2:40191167-40191213	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:40191103-40191247	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:40187346-40187369	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr2:40228397-40228552	K562	blood:	n/a	n/a
30	CTCF	chr2:40190280-40190430	GM12868	blood:	n/a	n/a
31	CTCF	chr2:40190340-40190490	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr2:40190320-40190470	WI-38	lung:	n/a	n/a
33	CTCF	chr2:40191116-40191231	GM12878	blood:	n/a	n/a
34	CTCF	chr2:40216640-40216790	HRE	kidney:	n/a	n/a
35	CTCF	chr2:40190280-40190430	HEK293	kidney:	n/a	n/a
36	CTCF	chr2:40191040-40191190	Caco-2	colon:	n/a	n/a
37	CTCF	chr2:40190380-40190530	GM12873	blood:	n/a	n/a
38	CTCF	chr2:40227306-40227339	Lung_OC	lung:	n/a	n/a
39	CTCF	chr2:40191040-40191190	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr2:40190320-40190470	HCFaa	heart:	n/a	n/a
41	CTCF	chr2:40191208-40191273	GM20000	blood:	n/a	n/a
42	CTCF	chr2:40228393-40228521	K562	blood:	n/a	n/a
43	CTCF	chr2:40191020-40191170	GM12864	blood:	n/a	n/a
44	CTCF	chr2:40190340-40190490	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr2:40190440-40190590	GM12864	blood:	n/a	n/a
46	CTCF	chr2:40216561-40216700	NHEK	skin:	n/a	n/a
47	CTCF	chr2:40216540-40216690	NHEK	skin:	n/a	n/a
48	CTCF	chr2:40190252-40190334	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr2:40191147-40191256	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:40190980-40191130	HFF	foreskin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40203342-40203392	CMK	blood:	n/a
2	chr2:40165558-40165608	HL-60	blood:	n/a
3	chr2:40203342-40203392	Caco-2	colon:	n/a
4	chr2:40203342-40203392	HCM	heart:	n/a
5	chr2:40203342-40203392	GM12892	blood:	n/a
6	chr2:40165558-40165608	Caco-2	colon:	n/a
7	chr2:40165558-40165608	HIPEpiC	eye:	n/a
8	chr2:40165558-40165608	AG09309	skin:	n/a
9	chr2:40165558-40165608	AoSMC	blood vessel:	n/a
10	chr2:40165558-40165608	MCF10A-Er-Src	breast:	n/a
11	chr2:40203342-40203392	NH-A	brain:	n/a
12	chr2:40165558-40165608	HMEC	breast:	n/a
13	chr2:40203342-40203392	HEEpiC	esophagus:	n/a
14	chr2:40203342-40203392	H1-hESC	embryonic stem cell:	embryo
15	chr2:40203342-40203392	HIPEpiC	eye:	n/a
16	chr2:40203342-40203392	PFSK-1	brain:	n/a
17	chr2:40165558-40165608	PANC-1	pancreas:	n/a
18	chr2:40165558-40165608	GM12892	blood:	n/a
19	chr2:40203342-40203392	AG09319	gingival:	n/a
20	chr2:40165558-40165608	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:40203342-40203392	ProgFib	skin:	n/a
22	chr2:40203342-40203392	AG04449	skin:	fetal
23	chr2:40203342-40203392	HepG2	liver:	n/a
24	chr2:40165558-40165608	U87	brain:	n/a
25	chr2:40165558-40165608	GM12878	blood:	n/a
26	chr2:40203342-40203392	SK-N-SH	brain:	n/a
27	chr2:40203342-40203392	K562	blood:	n/a
28	chr2:40203342-40203392	RPTEC	kidney:	n/a
29	chr2:40203342-40203392	AG10803	skin:	n/a
30	chr2:40165558-40165608	AG04449	skin:	fetal
31	chr2:40203342-40203392	ovcar-3	ovarian:	n/a
32	chr2:40203342-40203392	PANC-1	pancreas:	n/a
33	chr2:40203342-40203392	GM12891	blood:	n/a
34	chr2:40203342-40203392	HNPCEpiC	eye:	n/a
35	chr2:40203342-40203392	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:40203342-40203392	MCF10A-Er-Src	breast:	n/a
37	chr2:40165558-40165608	AG09319	gingival:	n/a
38	chr2:40203342-40203392	Hepatocyte	liver:	n/a
39	chr2:40203342-40203392	AoSMC	blood vessel:	n/a
40	chr2:40203342-40203392	HRCEpiC	kidney:	n/a
41	chr2:40165558-40165608	ECC-1	luminal epithelium:	n/a
42	chr2:40203342-40203392	SK-N-MC	brain:	n/a
43	chr2:40165558-40165608	IMR90	lung:	fetal
44	chr2:40165558-40165608	HCF	heart:	n/a
45	chr2:40165558-40165608	CMK	blood:	n/a
46	chr2:40165558-40165608	HCT-116	colon:	n/a
47	chr2:40165558-40165608	NB4	blood:	n/a
48	chr2:40203342-40203392	LNCaP	prostate:	n/a
49	chr2:40165558-40165608	AG04450	lung:	fetal
50	chr2:40165558-40165608	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40164512..40166990-chr2:40173493..40175018,2	MCF-7	breast:
2	chr2:40164512..40166990-chr2:40173493..40175018,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-2	chr2:40185553-40185606	ucscGeneNc_uc002rrw_2

No data

Variant related genes	Relation type
ENSG00000235653	TF binding region
ENSG00000235653	CpG island

Extended variants
information (count: 4357 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:4357 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7559023	chr2:40154844-40154845	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563075052	chr2:40154852-40154853	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148082601	chr2:40154873-40154874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs116493366	chr2:40154896-40154897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548939546	chr2:40154931-40154932	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566736551	chr2:40154937-40154938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs527712819	chr2:40154938-40154939	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552310234	chr2:40154945-40154946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374526667	chr2:40154952-40154953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114597891	chr2:40154974-40154975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs537959178	chr2:40155006-40155007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555895284	chr2:40155027-40155028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138749386	chr2:40155067-40155068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535354838	chr2:40155079-40155080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34923046	chr2:40155168-40155169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377667928	chr2:40155172-40155173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116277157	chr2:40155183-40155184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370624539	chr2:40155238-40155239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149364638	chr2:40155239-40155240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543021164	chr2:40155271-40155272	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539394067	chr2:40155291-40155292	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557474570	chr2:40155300-40155301	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190808426	chr2:40155320-40155321	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs143714480	chr2:40155332-40155333	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs35580179	chr2:40155337-40155338	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550357569	chr2:40155344-40155345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565286296	chr2:40155345-40155346	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563061576	chr2:40155355-40155356	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575119243	chr2:40155356-40155357	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs183254254	chr2:40155459-40155460	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560810207	chr2:40155460-40155461	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527993186	chr2:40155478-40155479	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs186453141	chr2:40155483-40155484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs74525735	chr2:40155486-40155487	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs531690741	chr2:40155554-40155555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539463795	chr2:40155575-40155576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375055200	chr2:40155576-40155577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7589354	chr2:40155591-40155592	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13424230	chr2:40155592-40155593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs535874910	chr2:40155604-40155605	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs138078834	chr2:40155640-40155641	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535297574	chr2:40155686-40155687	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547300338	chr2:40155710-40155711	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565924042	chr2:40155758-40155759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539352008	chr2:40155771-40155772	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7589583	chr2:40155830-40155831	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575993063	chr2:40155839-40155840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34595866	chr2:40155888-40155889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537126536	chr2:40155917-40155918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555528358	chr2:40155918-40155919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40141600-40164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40147000-40167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:40149000-40156000	Weak transcription	HSMM	muscle
4	chr2:40151200-40156600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:40152000-40158800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:40152600-40155600	Weak transcription	Fetal Thymus	thymus
7	chr2:40152800-40156200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40154000-40156400	Enhancers	Fetal Stomach	stomach
9	chr2:40154600-40156000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:40154800-40155000	Weak transcription	Dnd41	blood
11	chr2:40155000-40155600	Enhancers	Dnd41	blood
12	chr2:40155400-40156200	Enhancers	Ovary	ovary
13	chr2:40155600-40155800	Genic enhancers	Fetal Thymus	thymus
14	chr2:40155600-40155800	Genic enhancers	Dnd41	blood
15	chr2:40155600-40156200	Enhancers	Adipose Nuclei	Adipose
16	chr2:40155800-40156400	Strong transcription	Fetal Thymus	thymus
17	chr2:40155800-40157000	Strong transcription	Dnd41	blood
18	chr2:40156000-40156200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40156000-40156600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:40156000-40156800	ZNF genes & repeats	HSMM	muscle
21	chr2:40156200-40156800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40156200-40157600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:40156400-40157600	Weak transcription	Fetal Thymus	thymus
24	chr2:40156400-40160200	Weak transcription	Fetal Stomach	stomach
25	chr2:40156600-40156800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:40156800-40158600	Weak transcription	HSMM	muscle
27	chr2:40156800-40158800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:40157000-40159200	Genic enhancers	Dnd41	blood
29	chr2:40157600-40158000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:40157600-40158200	Enhancers	Thymus	Thymus
31	chr2:40157600-40158600	Enhancers	Fetal Thymus	thymus
32	chr2:40158600-40158800	Genic enhancers	Fetal Thymus	thymus
33	chr2:40158600-40159200	ZNF genes & repeats	HSMM	muscle
34	chr2:40158800-40159400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:40158800-40159400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:40158800-40159600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:40158800-40159600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:40158800-40164800	Weak transcription	Fetal Thymus	thymus
39	chr2:40159000-40159400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:40159000-40159600	Enhancers	NHEK	skin
41	chr2:40159200-40160200	Weak transcription	Dnd41	blood
42	chr2:40159200-40164800	Weak transcription	HSMM	muscle
43	chr2:40159400-40160000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:40159400-40165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:40159600-40160000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40159600-40162000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:40160000-40160600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:40160000-40161200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:40160200-40160400	Enhancers	Fetal Stomach	stomach
50	chr2:40160200-40164600	Enhancers	Dnd41	blood

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