Variant report

Variant	nsv582235
Chromosome Location	chr2:76881210-76997763
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	BACH1	chr2:76938766-76938931	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:76990421-76990724	GM12878	blood:	n/a	n/a
3	BRCA1	chr2:76996504-76996546	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:76895441-76895751	HepG2	liver:	n/a	chr2:76895585-76895596
5	CEBPB	chr2:76948452-76948498	A549	lung:	n/a	n/a
6	CEBPB	chr2:76905481-76905727	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:76964399-76964685	HepG2	liver:	n/a	chr2:76964540-76964551 chr2:76964542-76964551 chr2:76964541-76964552
8	CEBPB	chr2:76895437-76895745	A549	lung:	n/a	chr2:76895585-76895596
9	CEBPB	chr2:76940227-76940375	HepG2	liver:	n/a	chr2:76940312-76940329 chr2:76940315-76940326
10	CEBPB	chr2:76919038-76919059	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:76964387-76964635	A549	lung:	n/a	chr2:76964540-76964551 chr2:76964542-76964551 chr2:76964541-76964552
12	CEBPZ	chr2:76896774-76896793	HepG2	liver:	n/a	n/a
13	CTCF	chr2:76909670-76909704	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:76908575-76908614	GM10266	blood:	n/a	n/a
15	CTCF	chr2:76988180-76988330	GM12864	blood:	n/a	n/a
16	CTCF	chr2:76894900-76895050	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr2:76915960-76916110	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:76894800-76895090	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr2:76975903-76975916	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:76975875-76975889	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:76938780-76938930	GM12874	blood:	n/a	n/a
22	CTCF	chr2:76968569-76968624	GM13976	blood:	n/a	n/a
23	CTCF	chr2:76895250-76895259	GM13976	blood:	n/a	n/a
24	CTCF	chr2:76993800-76993950	GM12865	blood:	n/a	n/a
25	E2F4	chr2:76989416-76989575	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr2:76959994-76960194	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr2:76969891-76969975	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr2:76958496-76958699	GM12878	blood:	n/a	n/a
29	EBF1	chr2:76958526-76958663	GM12878	blood:	n/a	n/a
30	ELK1	chr2:76981971-76982040	GM12878	blood:	n/a	n/a
31	EP300	chr2:76893654-76898118	SK-N-SH	brain:	n/a	chr2:76898060-76898074 chr2:76893787-76893795 chr2:76896166-76896180 chr2:76897442-76897450 chr2:76897541-76897555
32	EP300	chr2:76920915-76921208	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr2:76919770-76920798	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr2:76894867-76895349	SK-N-SH	brain:	n/a	n/a
35	EP300	chr2:76920142-76920704	SK-N-SH	brain:	n/a	n/a
36	EP300	chr2:76928035-76928380	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr2:76919844-76920590	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr2:76912790-76913879	SK-N-SH	brain:	n/a	n/a
39	EP300	chr2:76894668-76895568	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr2:76918004-76921489	SK-N-SH	brain:	n/a	chr2:76918539-76918553 chr2:76918049-76918063
41	EP300	chr2:76894559-76895863	SK-N-SH_RA	brain:	n/a	n/a
42	FAM48A	chr2:76947626-76947889	GM12878	blood:	n/a	n/a
43	FAM48A	chr2:76914437-76914565	GM12878	blood:	n/a	n/a
44	FOS	chr2:76906067-76906585	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:76980242-76980418	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:76980290-76980402	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:76980258-76980443	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:76948491-76948691	MCF10A-Er-Src	breast:	n/a	chr2:76948515-76948527 chr2:76948512-76948520
49	FOS	chr2:76890979-76891195	HUVEC	blood vessel:	n/a	chr2:76891090-76891102 chr2:76891046-76891053 chr2:76891045-76891053 chr2:76891045-76891053
50	FOS	chr2:76906181-76906500	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76924718-76924768	HAEpiC	amniotic membrane:	n/a
2	chr2:76924782-76924832	SK-N-SH_RA	brain:	n/a
3	chr2:76925561-76925611	HEK293	kidney:	embryo
4	chr2:76918370-76918420	IMR90	lung:	fetal
5	chr2:76925561-76925611	PrEC	prostate:	n/a
6	chr2:76918370-76918420	HEEpiC	esophagus:	n/a
7	chr2:76925561-76925611	BE2_C	brain:	n/a
8	chr2:76955976-76956026	PrEC	prostate:	n/a
9	chr2:76918370-76918420	SK-N-SH_RA	brain:	n/a
10	chr2:76924718-76924768	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:76918370-76918420	GM12891	blood:	n/a
12	chr2:76975220-76975270	A549	lung:	n/a
13	chr2:76925561-76925611	HCPEpiC	choroid plexus:	n/a
14	chr2:76925561-76925611	CMK	blood:	n/a
15	chr2:76925398-76925448	HCM	heart:	n/a
16	chr2:76905622-76905672	ProgFib	skin:	n/a
17	chr2:76955976-76956026	BE2_C	brain:	n/a
18	chr2:76955976-76956026	NHBE	bronchial:	n/a
19	chr2:76905622-76905672	PrEC	prostate:	n/a
20	chr2:76925398-76925448	Caco-2	colon:	n/a
21	chr2:76905622-76905672	GM12891	blood:	n/a
22	chr2:76975220-76975270	HNPCEpiC	eye:	n/a
23	chr2:76924782-76924832	T-47D	breast:	n/a
24	chr2:76925398-76925448	NHDF-neo	bronchial:	n/a
25	chr2:76975220-76975270	GM12878	blood:	n/a
26	chr2:76924718-76924768	GM12892	blood:	n/a
27	chr2:76975220-76975270	ProgFib	skin:	n/a
28	chr2:76918370-76918420	NHBE	bronchial:	n/a
29	chr2:76905622-76905672	HepG2	liver:	n/a
30	chr2:76955976-76956026	HRPEpiC	eye:	n/a
31	chr2:76924782-76924832	NH-A	brain:	n/a
32	chr2:76955976-76956026	HRCEpiC	kidney:	n/a
33	chr2:76924718-76924768	HNPCEpiC	eye:	n/a
34	chr2:76925561-76925611	AoSMC	blood vessel:	n/a
35	chr2:76918370-76918420	AG10803	skin:	n/a
36	chr2:76924718-76924768	ECC-1	luminal epithelium:	n/a
37	chr2:76918370-76918420	LNCaP	prostate:	n/a
38	chr2:76955976-76956026	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:76905622-76905672	AG10803	skin:	n/a
40	chr2:76925398-76925448	HAEpiC	amniotic membrane:	n/a
41	chr2:76925398-76925448	HCT-116	colon:	n/a
42	chr2:76924782-76924832	NHDF-neo	bronchial:	n/a
43	chr2:76918370-76918420	NHDF-neo	bronchial:	n/a
44	chr2:76975220-76975270	SK-N-MC	brain:	n/a
45	chr2:76975220-76975270	U87	brain:	n/a
46	chr2:76905622-76905672	GM19239	blood:	n/a
47	chr2:76925561-76925611	SKMC	muscle:	n/a
48	chr2:76918370-76918420	HEK293	kidney:	embryo
49	chr2:76905622-76905672	AG09319	gingival:	n/a
50	chr2:76925561-76925611	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:76886401..76888987-chr2:76909851..76912753,2	K562	blood:
2	chr2:76886401..76888987-chr2:76909851..76912753,2	K562	blood:

Variant related genes	Relation type
RNA5SP98	TF binding region
RNA5SP98	CpG island

Extended variants
information (count: 5304 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5304 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7606395	chr2:76881210-76881211	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139351189	chr2:76881214-76881215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143271793	chr2:76881216-76881217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189995998	chr2:76881250-76881251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375351260	chr2:76881259-76881260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368424528	chr2:76881295-76881296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571931018	chr2:76881300-76881301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112654741	chr2:76881316-76881317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs13027279	chr2:76881325-76881326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147111050	chr2:76881333-76881334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138508418	chr2:76881338-76881339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79797534	chr2:76881351-76881352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149608965	chr2:76881429-76881430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545740157	chr2:76881448-76881449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143970157	chr2:76881453-76881454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527900121	chr2:76881454-76881455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113226632	chr2:76881482-76881483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549455588	chr2:76881511-76881512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372216762	chr2:76881561-76881562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117096069	chr2:76881567-76881568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117503997	chr2:76881570-76881571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533587320	chr2:76881578-76881579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149880678	chr2:76891286-76891287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560970215	chr2:76891292-76891293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2860830	chr2:76891296-76891297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6757786	chr2:76891314-76891315	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532846697	chr2:76891334-76891335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114752307	chr2:76891382-76891383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547607672	chr2:76891434-76891435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147574862	chr2:76891446-76891447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141939059	chr2:76891598-76891599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370345971	chr2:76891607-76891608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146233998	chr2:76891618-76891619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569684489	chr2:76891631-76891632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188896574	chr2:76891632-76891633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548380065	chr2:76891649-76891650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556898205	chr2:76891756-76891757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578225848	chr2:76891782-76891783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538842711	chr2:76891792-76891793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570313159	chr2:76891802-76891803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551086458	chr2:76891807-76891808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113371530	chr2:76891836-76891837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138895353	chr2:76891848-76891849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554504890	chr2:76891851-76891852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191229319	chr2:76891864-76891865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543460900	chr2:76891867-76891868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376386348	chr2:76891883-76891884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564825682	chr2:76891899-76891900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113705429	chr2:76891902-76891903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540844087	chr2:76891935-76891936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76881000-76881600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr2:76891200-76891400	Active TSS	Fetal Brain Male	brain
3	chr2:76891400-76894800	Weak transcription	Fetal Brain Male	brain
4	chr2:76892600-76902400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:76894400-76895800	Enhancers	Fetal Heart	heart
6	chr2:76894600-76895000	Enhancers	Colon Smooth Muscle	Colon
7	chr2:76894600-76895400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:76894600-76898000	Enhancers	Fetal Brain Female	brain
9	chr2:76894800-76895000	Enhancers	Left Ventricle	heart
10	chr2:76894800-76895200	Enhancers	Fetal Stomach	stomach
11	chr2:76894800-76895200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:76894800-76895200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:76894800-76895400	Enhancers	Fetal Muscle Leg	muscle
14	chr2:76894800-76898400	Enhancers	Fetal Brain Male	brain
15	chr2:76894800-76898600	Enhancers	Fetal Lung	lung
16	chr2:76895000-76895200	Enhancers	Fetal Kidney	kidney
17	chr2:76895000-76895400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:76895000-76895400	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:76895000-76895800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:76895200-76895800	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:76895400-76895800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:76895400-76896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:76895800-76896000	Flanking Active TSS	Fetal Heart	heart
24	chr2:76895800-76896000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:76895800-76897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:76896000-76898000	Enhancers	Fetal Heart	heart
27	chr2:76896000-76899400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:76896400-76896600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:76896400-76896600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:76896400-76896600	Enhancers	Fetal Kidney	kidney
31	chr2:76896600-76897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:76896600-76897200	Weak transcription	Fetal Kidney	kidney
33	chr2:76897000-76897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:76897200-76897400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:76897200-76897600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:76897200-76897600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:76897200-76897800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:76897200-76897800	Enhancers	Brain Germinal Matrix	brain
39	chr2:76897400-76897600	Enhancers	Fetal Kidney	kidney
40	chr2:76897800-76898600	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:76898000-76901200	Weak transcription	Fetal Brain Female	brain
42	chr2:76898400-76900800	Weak transcription	Fetal Brain Male	brain
43	chr2:76898600-76899000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:76898600-76905400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:76899000-76900000	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:76899400-76900000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:76899600-76900200	Enhancers	Stomach Mucosa	stomach
48	chr2:76900000-76901000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:76900000-76905600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:76900200-76901600	Weak transcription	Stomach Mucosa	stomach

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