Variant report

Variant	nsv535727
Chromosome Location	chr2:56895497-57059359
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	ATF1	chr2:56994176-56994258	K562	blood:	n/a	n/a
2	ATF1	chr2:57013062-57013304	K562	blood:	n/a	n/a
3	ATF2	chr2:56997583-56998016	GM12878	blood:	n/a	n/a
4	ATF3	chr2:56968584-56969210	A549	lung:	n/a	n/a
5	ATF3	chr2:56968638-56969377	A549	lung:	n/a	n/a
6	BATF	chr2:56997704-56997941	GM12878	blood:	n/a	chr2:56997831-56997842
7	BATF	chr2:56997653-56997934	GM12878	blood:	n/a	chr2:56997831-56997842
8	BATF	chr2:56980310-56980554	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:56997668-56997942	GM12878	blood:	n/a	n/a
10	BCL3	chr2:56968527-56969366	A549	lung:	n/a	n/a
11	BCL3	chr2:56968619-56969314	A549	lung:	n/a	n/a
12	BRCA1	chr2:56958792-56958802	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr2:56968715-56969165	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr2:56968576-56969072	HCT-116	colon:	n/a	n/a
15	CBX3	chr2:56926175-56926458	HCT-116	colon:	n/a	n/a
16	CCNT2	chr2:57041614-57041799	K562	blood:	n/a	n/a
17	CCNT2	chr2:56997165-56997365	K562	blood:	n/a	n/a
18	CEBPB	chr2:56908127-56908508	A549	lung:	n/a	n/a
19	CEBPB	chr2:57007014-57007204	K562	blood:	n/a	chr2:57007078-57007089
20	CEBPB	chr2:57034021-57034373	MCF-7	breast:	n/a	n/a
21	CEBPB	chr2:56985119-56985377	HepG2	liver:	n/a	chr2:56985235-56985248 chr2:56985235-56985246 chr2:56985236-56985247
22	CEBPB	chr2:57034077-57034391	A549	lung:	n/a	n/a
23	CEBPB	chr2:57006977-57007173	A549	lung:	n/a	chr2:57007078-57007089
24	CEBPB	chr2:56985109-56985421	A549	lung:	n/a	chr2:56985235-56985248 chr2:56985235-56985246 chr2:56985236-56985247
25	CEBPB	chr2:57033949-57034555	A549	lung:	n/a	n/a
26	CEBPB	chr2:56915907-56916098	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr2:57010410-57010654	A549	lung:	n/a	chr2:57010540-57010551 chr2:57010503-57010514
28	CEBPB	chr2:56908106-56908673	Hela-S3	cervix:	n/a	chr2:56908635-56908648 chr2:56908634-56908651
29	CEBPB	chr2:56971118-56971236	HepG2	liver:	n/a	chr2:56971168-56971179
30	CEBPB	chr2:56968732-56969245	IMR90	lung:	n/a	chr2:56968916-56968929
31	CEBPB	chr2:56968504-56969240	A549	lung:	n/a	chr2:56968916-56968929
32	CEBPB	chr2:56945055-56945211	IMR90	lung:	n/a	chr2:56945065-56945078 chr2:56945066-56945077
33	CEBPB	chr2:57037725-57038047	Hela-S3	cervix:	n/a	chr2:57037916-57037927 chr2:57037758-57037775 chr2:57037918-57037929
34	CEBPB	chr2:57037746-57038047	HepG2	liver:	n/a	chr2:57037916-57037927 chr2:57037758-57037775 chr2:57037918-57037929
35	CEBPB	chr2:57006992-57007246	IMR90	lung:	n/a	chr2:57007078-57007089
36	CEBPB	chr2:57010416-57010803	HepG2	liver:	n/a	chr2:57010540-57010551 chr2:57010503-57010514
37	CEBPB	chr2:57034031-57034462	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:56944997-56945240	HepG2	liver:	n/a	chr2:56945065-56945078 chr2:56945066-56945077
39	CEBPB	chr2:56908093-56908547	A549	lung:	n/a	n/a
40	CEBPB	chr2:56990938-56991146	A549	lung:	n/a	n/a
41	CEBPB	chr2:56922336-56922436	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr2:56968483-56969408	A549	lung:	n/a	chr2:56968916-56968929
43	CEBPB	chr2:57039646-57040011	MCF-7	breast:	n/a	n/a
44	CEBPB	chr2:56968665-56969269	Hela-S3	cervix:	n/a	chr2:56968916-56968929
45	CEBPB	chr2:57006911-57007265	HepG2	liver:	n/a	chr2:57007078-57007089
46	CEBPB	chr2:56928896-56929065	HepG2	liver:	n/a	chr2:56928983-56928994
47	CEBPB	chr2:56968648-56969351	A549	lung:	n/a	chr2:56968916-56968929
48	CEBPB	chr2:57020847-57021162	HepG2	liver:	n/a	chr2:57020979-57020990
49	CHD2	chr2:56968647-56969159	Hela-S3	cervix:	n/a	n/a
50	CREB1	chr2:56968678-56968888	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:56997703..56999296-chr2:57011926..57014412,2	K562	blood:
2	chr2:57011309..57011934-chr2:57604188..57604743,2	MCF-7	breast:
3	chr2:56963796..56964597-chr4:36669358..36670047,2	MCF-7	breast:
4	chr2:56418873..56419603-chr2:56975911..56976760,2	MCF-7	breast:
5	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
6	chr2:56962863..56964748-chr2:56970862..56973633,2	MCF-7	breast:
7	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:
8	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
9	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
10	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
11	chr2:56410661..56411329-chr2:56976031..56976883,5	MCF-7	breast:
12	chr2:56410374..56411316-chr2:56976212..56976966,3	MCF-7	breast:
13	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
14	chr2:56997703..56999296-chr2:57011926..57014412,2	K562	blood:
15	chr2:56962863..56964748-chr2:56970862..56973633,2	MCF-7	breast:
16	chr2:56438471..56441225-chr2:57051813..57054565,2	MCF-7	breast:
17	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
18	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-3	chr2:56977435-56977698	NONHSAT070829

Variant related genes	Relation type
ENSG00000231570	TF binding region
ENSG00000055813	chromatin interactions

Extended variants
information (count: 4130 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4130 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530629002	chr2:56895526-56895527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79472593	chr2:56895532-56895533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550360825	chr2:56895547-56895548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185549929	chr2:56895559-56895560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145334379	chr2:56895576-56895577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75911525	chr2:56895614-56895615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566064290	chr2:56895630-56895631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74814216	chr2:56895654-56895655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563135239	chr2:56895656-56895657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534665672	chr2:56895661-56895662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571041998	chr2:56895694-56895695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554960127	chr2:56895698-56895699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568181100	chr2:56895699-56895700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13386206	chr2:56895701-56895702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs137907008	chr2:56895702-56895703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17048291	chr2:56895724-56895725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141618755	chr2:56895744-56895745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72940830	chr2:56895748-56895749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533618878	chr2:56895775-56895776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573093675	chr2:56895779-56895780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138656269	chr2:56895820-56895821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112623451	chr2:56895850-56895851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528671425	chr2:56895865-56895866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149317216	chr2:56895867-56895868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544359798	chr2:56895911-56895912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563864129	chr2:56895931-56895932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532645294	chr2:56895943-56895944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552742793	chr2:56895983-56895984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566202895	chr2:56895985-56895986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147405782	chr2:56895986-56895987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548150909	chr2:56895992-56895993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139624034	chr2:56896059-56896060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537131017	chr2:56896062-56896063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369657642	chr2:56896106-56896107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557072890	chr2:56896113-56896114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574167568	chr2:56896118-56896119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115900941	chr2:56896141-56896142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79105111	chr2:56896180-56896181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553139080	chr2:56896199-56896200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143935903	chr2:56896206-56896207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190311910	chr2:56896208-56896209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12465575	chr2:56896231-56896232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555388143	chr2:56896280-56896281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372017007	chr2:56896287-56896288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147266497	chr2:56896299-56896300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544323497	chr2:56896321-56896322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6757997	chr2:56896324-56896325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs571966773	chr2:56896365-56896366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182488750	chr2:56896389-56896390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559920369	chr2:56896409-56896410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56895400-56896000	Enhancers	Adipose Nuclei	Adipose
2	chr2:56896000-56898800	Weak transcription	Adipose Nuclei	Adipose
3	chr2:56898800-56900200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr2:56899400-56899800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr2:56899400-56900000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:56899400-56900000	ZNF genes & repeats	Gastric	stomach
7	chr2:56899400-56900600	ZNF genes & repeats	Pancreas	Pancrea
8	chr2:56899600-56900600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:56906800-56909800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:56907000-56908000	Enhancers	HUVEC	blood vessel
11	chr2:56907000-56909800	Enhancers	HSMM	muscle
12	chr2:56907200-56909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:56907200-56909400	Enhancers	NHEK	skin
14	chr2:56907200-56909600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56907200-56909800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:56907400-56907800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:56907400-56907800	Enhancers	HSMMtube	muscle
18	chr2:56907400-56909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56907600-56908000	Enhancers	Osteobl	bone
20	chr2:56907600-56909200	Enhancers	NHDF-Ad	bronchial
21	chr2:56907800-56909200	Weak transcription	HSMMtube	muscle
22	chr2:56907800-56909400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:56907800-56914200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:56908000-56908400	Flanking Active TSS	HUVEC	blood vessel
25	chr2:56908000-56909000	Weak transcription	Osteobl	bone
26	chr2:56908200-56909800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:56908400-56909800	Enhancers	HUVEC	blood vessel
28	chr2:56909200-56909400	Enhancers	HSMMtube	muscle
29	chr2:56909200-56909400	Enhancers	Osteobl	bone
30	chr2:56909200-56914000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:56909400-56914200	Weak transcription	NHEK	skin
32	chr2:56909600-56914200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:56909800-56913200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:56909800-56913600	Weak transcription	HUVEC	blood vessel
35	chr2:56909800-56914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:56911400-56913200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:56911600-56911800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:56913200-56916000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:56913600-56914600	Enhancers	HUVEC	blood vessel
40	chr2:56914000-56915200	Enhancers	HSMM	muscle
41	chr2:56914000-56916200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:56914200-56914400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:56914200-56914600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:56914200-56916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:56914200-56916000	Enhancers	NHEK	skin
46	chr2:56914400-56914600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:56914600-56928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:56928600-56929000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:56932000-56932200	Enhancers	Psoas Muscle	Psoas
50	chr2:56932200-56943000	Weak transcription	Psoas Muscle	Psoas

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