Variant report

Variant	nsv455863
Chromosome Location	chr2:21547003-21615340
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	CEBPB	chr2:21569872-21570171	K562	blood:	n/a	chr2:21570021-21570032
2	CEBPB	chr2:21581904-21582276	IMR90	lung:	n/a	chr2:21582081-21582092
3	CEBPB	chr2:21569853-21570158	A549	lung:	n/a	chr2:21570021-21570032
4	CEBPB	chr2:21582013-21582153	K562	blood:	n/a	chr2:21582081-21582092
5	CEBPB	chr2:21591409-21591713	HepG2	liver:	n/a	chr2:21591537-21591548
6	CEBPB	chr2:21555816-21556045	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:21590303-21590610	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:21553868-21554204	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:21553931-21554166	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:21613134-21613371	HepG2	liver:	n/a	chr2:21613277-21613288
11	CEBPB	chr2:21574513-21574559	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:21569874-21570200	IMR90	lung:	n/a	chr2:21570021-21570032
13	CEBPB	chr2:21569936-21570129	H1-hESC	embryonic stem cell:	n/a	chr2:21570021-21570032
14	CEBPB	chr2:21569876-21570190	HepG2	liver:	n/a	chr2:21570021-21570032
15	CEBPB	chr2:21581915-21582240	HepG2	liver:	n/a	chr2:21582081-21582092
16	CEBPB	chr2:21591386-21591716	IMR90	lung:	n/a	chr2:21591537-21591548
17	CEBPZ	chr2:21591481-21591510	HepG2	liver:	n/a	n/a
18	CTCF	chr2:21586291-21586470	K562	blood:	n/a	n/a
19	CTCF	chr2:21586320-21586470	HepG2	liver:	n/a	n/a
20	CTCF	chr2:21586360-21586510	RPTEC	kidney:	n/a	n/a
21	CTCF	chr2:21595660-21595810	HCT-116	colon:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
22	CTCF	chr2:21549060-21549210	HMEC	breast:	n/a	n/a
23	CTCF	chr2:21549101-21549372	IMR90	lung:	n/a	n/a
24	CTCF	chr2:21595485-21595924	MCF-7	breast:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
25	CTCF	chr2:21586976-21586979	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:21595640-21595790	HRPEpiC	eye:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
27	CTCF	chr2:21595660-21595810	HRE	kidney:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
28	CTCF	chr2:21586315-21586413	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr2:21586320-21586470	GM12864	blood:	n/a	n/a
30	CTCF	chr2:21595660-21595810	HPAF	blood vessel:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
31	CTCF	chr2:21586329-21586469	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:21549160-21549310	HepG2	liver:	n/a	n/a
33	CTCF	chr2:21586225-21586552	HepG2	liver:	n/a	n/a
34	CTCF	chr2:21595538-21595904	IMR90	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
35	CTCF	chr2:21586311-21586457	K562	blood:	n/a	n/a
36	CTCF	chr2:21586300-21586450	NHEK	skin:	n/a	n/a
37	CTCF	chr2:21590400-21590550	HMEC	breast:	n/a	n/a
38	CTCF	chr2:21595700-21595850	GM12865	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
39	CTCF	chr2:21595740-21595890	WI-38	lung:	n/a	n/a
40	CTCF	chr2:21595680-21595830	SAEC	small airway:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
41	CTCF	chr2:21595640-21595790	GM12867	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
42	CTCF	chr2:21595560-21595710	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr2:21595680-21595830	GM12873	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
44	CTCF	chr2:21586260-21586410	A549	lung:	n/a	n/a
45	CTCF	chr2:21595600-21595750	WI-38	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744
46	CTCF	chr2:21595600-21595750	RPTEC	kidney:	n/a	chr2:21595728-21595746 chr2:21595731-21595744
47	CTCF	chr2:21586220-21586370	GM12871	blood:	n/a	n/a
48	CTCF	chr2:21549199-21549251	A549	lung:	n/a	n/a
49	CTCF	chr2:21586320-21586470	K562	blood:	n/a	n/a
50	CTCF	chr2:21549112-21549340	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:21609330..21611613-chr2:21622342..21624204,2	K562	blood:
2	chr2:21587712..21590244-chr2:21592919..21594979,2	K562	blood:
3	chr2:21574697..21577438-chr2:21577712..21580570,2	K562	blood:
4	chr2:21581236..21582841-chr2:21583141..21585859,2	K562	blood:
5	chr2:21587712..21590244-chr2:21592919..21594979,2	K562	blood:
6	chr2:21612257..21615069-chr2:21615594..21618412,3	MCF-7	breast:
7	chr2:21595342..21596346-chr2:21617977..21618695,3	MCF-7	breast:
8	chr2:21574697..21577438-chr2:21577712..21580570,2	K562	blood:
9	chr2:21581236..21582841-chr2:21583141..21585859,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOB-12	chr2:21586700-21586897	NONHSAT069491
2	lnc-AC010872.2.1-6	chr2:21603884-21603925	NONHSAT069477
3	lnc-AC010872.2.1-6	chr2:21605590-21605620	NONHSAT069477
4	lnc-APOB-12	chr2:21585164-21585328	NONHSAT069491

Variant related genes	Relation type
ENSG00000231204	TF binding region
ENSG00000270654	TF binding region

Extended variants
information (count: 2694 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2694 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7571014	chr2:21547003-21547004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538669528	chr2:21547097-21547098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574574498	chr2:21547123-21547124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369134456	chr2:21547133-21547134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553654715	chr2:21547151-21547152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138656360	chr2:21547165-21547166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182475307	chr2:21547168-21547169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149314490	chr2:21547177-21547178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112701939	chr2:21547253-21547254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59317255	chr2:21547254-21547255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550097201	chr2:21547280-21547281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373296710	chr2:21547288-21547289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59810996	chr2:21547289-21547290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569530111	chr2:21547310-21547311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191848173	chr2:21547320-21547321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527368473	chr2:21547326-21547327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547473019	chr2:21547341-21547342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535478789	chr2:21547348-21547349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183615138	chr2:21547364-21547365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113656614	chr2:21547396-21547397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569187507	chr2:21547400-21547401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538179629	chr2:21547405-21547406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142343812	chr2:21547418-21547419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188899910	chr2:21547424-21547425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193102612	chr2:21547441-21547442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182136756	chr2:21547445-21547446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533987241	chr2:21547454-21547455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556304117	chr2:21547462-21547463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145980614	chr2:21547487-21547488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539616753	chr2:21547488-21547489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556432589	chr2:21547495-21547496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570441661	chr2:21547496-21547497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576371320	chr2:21547501-21547502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542167066	chr2:21547512-21547513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561621948	chr2:21547515-21547516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186725872	chr2:21547522-21547523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540713962	chr2:21547556-21547557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564207439	chr2:21547570-21547571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532914854	chr2:21547606-21547607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552335366	chr2:21547639-21547640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562756190	chr2:21547681-21547682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72900456	chr2:21547711-21547712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554172076	chr2:21547718-21547719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568323697	chr2:21547782-21547783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547677439	chr2:21547811-21547812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534188233	chr2:21547847-21547848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191525998	chr2:21547877-21547878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72900457	chr2:21547922-21547923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539957057	chr2:21547927-21547928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75671461	chr2:21547949-21547950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21540200-21559000	Weak transcription	Aorta	Aorta
2	chr2:21551000-21551200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:21551200-21552000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:21552000-21556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:21552000-21556800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:21552600-21553400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:21553400-21554200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:21553400-21554400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:21553400-21554800	Enhancers	Liver	Liver
10	chr2:21553400-21554800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:21554000-21554800	Enhancers	Ovary	ovary
12	chr2:21554200-21554400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:21554400-21554600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:21554400-21555000	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:21554400-21556800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:21554600-21554800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:21554800-21556000	Weak transcription	Ovary	ovary
18	chr2:21554800-21556200	Weak transcription	Liver	Liver
19	chr2:21555000-21556000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:21555600-21556200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:21555800-21556200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:21555800-21556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:21555800-21556200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:21555800-21556800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:21555800-21557400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:21556000-21556200	Enhancers	Pancreas	Pancrea
27	chr2:21556000-21556400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:21556000-21556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:21556000-21556600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:21556000-21556600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:21556000-21556600	Enhancers	Brain Germinal Matrix	brain
32	chr2:21556000-21556600	Enhancers	Ovary	ovary
33	chr2:21556000-21557000	Enhancers	Fetal Kidney	kidney
34	chr2:21556000-21557200	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:21556000-21557400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:21556200-21556600	Enhancers	Liver	Liver
37	chr2:21556200-21556800	Enhancers	Fetal Brain Male	brain
38	chr2:21556200-21557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:21556800-21557000	Enhancers	Pancreas	Pancrea
40	chr2:21559000-21559400	ZNF genes & repeats	Aorta	Aorta
41	chr2:21559400-21567200	Weak transcription	Aorta	Aorta
42	chr2:21566000-21566200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:21566200-21566400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:21566200-21566800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:21566600-21567800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:21566800-21569200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:21567200-21567400	ZNF genes & repeats	Aorta	Aorta
48	chr2:21567800-21568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:21568600-21574200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:21569200-21574000	Weak transcription	Placenta Amnion	Placenta Amnion

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