Variant report

Variant	nsv1011401
Chromosome Location	chr2:76982546-77068714
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	BHLHE40	chr2:76990421-76990724	GM12878	blood:	n/a	n/a
2	BRCA1	chr2:76996504-76996546	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:77055418-77055648	HepG2	liver:	n/a	chr2:77055485-77055496
4	CEBPB	chr2:77037981-77037985	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:77010682-77010947	A549	lung:	n/a	chr2:77010821-77010838 chr2:77010824-77010835
6	CEBPB	chr2:77048855-77049199	HepG2	liver:	n/a	chr2:77049026-77049037
7	CEBPB	chr2:77061836-77062064	HepG2	liver:	n/a	chr2:77061951-77061964 chr2:77061951-77061962 chr2:77061885-77061897 chr2:77061952-77061963
8	CEBPB	chr2:77052964-77053028	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:77016731-77016931	HepG2	liver:	n/a	chr2:77016791-77016802
10	CEBPB	chr2:77037860-77038175	IMR90	lung:	n/a	chr2:77037987-77037998 chr2:77037904-77037912
11	CEBPB	chr2:77037842-77038155	HepG2	liver:	n/a	chr2:77037987-77037998 chr2:77037904-77037912
12	CEBPB	chr2:77010672-77011002	HepG2	liver:	n/a	chr2:77010821-77010838 chr2:77010824-77010835
13	CEBPB	chr2:77063314-77063462	HepG2	liver:	n/a	chr2:77063403-77063414
14	CEBPB	chr2:77063392-77063498	A549	lung:	n/a	chr2:77063403-77063414
15	CTCF	chr2:76993800-76993950	GM12865	blood:	n/a	n/a
16	CTCF	chr2:77034098-77034116	Lung_OC	lung:	n/a	n/a
17	CTCF	chr2:77019740-77019890	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:77049695-77049771	LNCaP	prostate:	n/a	n/a
19	CTCF	chr2:76988180-76988330	GM12864	blood:	n/a	n/a
20	CTCF	chr2:77049686-77049807	LNCaP	prostate:	n/a	n/a
21	E2F4	chr2:77020823-77020830	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr2:77033912-77034193	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr2:76989416-76989575	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr2:77056940-77056942	GM12878	blood:	n/a	n/a
25	EBF1	chr2:77053991-77054385	GM12878	blood:	n/a	chr2:77054181-77054192
26	EBF1	chr2:77028065-77028265	GM12878	blood:	n/a	n/a
27	EBF1	chr2:77054073-77054266	GM12878	blood:	n/a	chr2:77054181-77054192
28	EP300	chr2:77035734-77036641	SK-N-SH_RA	brain:	n/a	chr2:77036017-77036031 chr2:77036055-77036063
29	EP300	chr2:77035426-77037203	SK-N-SH	brain:	n/a	chr2:77036017-77036031 chr2:77036055-77036063 chr2:77035572-77035586
30	EP300	chr2:77035750-77036334	SK-N-SH_RA	brain:	n/a	chr2:77036017-77036031 chr2:77036055-77036063
31	EP300	chr2:77028069-77028271	GM12878	blood:	n/a	n/a
32	FOXA1	chr2:77008266-77008579	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:77023244-77023610	HepG2	liver:	n/a	n/a
34	FOXA2	chr2:77023187-77023507	A549	lung:	n/a	n/a
35	FOXA2	chr2:77008132-77008656	A549	lung:	n/a	n/a
36	FOXA2	chr2:77008298-77008700	A549	lung:	n/a	n/a
37	FOXA2	chr2:77023258-77023702	A549	lung:	n/a	n/a
38	FOXP2	chr2:77008358-77008556	PFSK-1	brain:	n/a	n/a
39	GABPA	chr2:77028095-77028190	Hela-S3	cervix:	n/a	n/a
40	GATA2	chr2:76993927-76994207	SH-SY5Y	brain:	n/a	n/a
41	GATA2	chr2:77017773-77018379	SH-SY5Y	brain:	n/a	n/a
42	GATA2	chr2:77002302-77002883	SH-SY5Y	brain:	n/a	n/a
43	GATA2	chr2:77035716-77037031	SH-SY5Y	brain:	n/a	chr2:77036276-77036283
44	GATA3	chr2:77035840-77036437	SK-N-SH	brain:	n/a	chr2:77036276-77036283
45	GATA3	chr2:76998216-76998224	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr2:77035748-77036395	SK-N-SH	brain:	n/a	chr2:77036276-77036283
47	GATA3	chr2:76989076-76989168	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr2:77017850-77018094	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr2:77002467-77002890	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr2:77035733-77036651	SH-SY5Y	brain:	n/a	chr2:77036276-77036283

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:77038948-77038998	PrEC	prostate:	n/a
2	chr2:77038948-77038998	AG04449	skin:	fetal
3	chr2:77038948-77038998	IMR90	lung:	fetal
4	chr2:77038948-77038998	GM06990	blood:	n/a
5	chr2:77038948-77038998	AG09319	gingival:	n/a
6	chr2:77038948-77038998	NH-A	brain:	n/a
7	chr2:77038948-77038998	Hela-S3	cervix:	n/a
8	chr2:77038948-77038998	NT2-D1	testis:	n/a
9	chr2:77038948-77038998	MCF-7	breast:	n/a
10	chr2:77038948-77038998	ovcar-3	ovarian:	n/a
11	chr2:77038948-77038998	BJ	skin:	n/a
12	chr2:77038948-77038998	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:77038948-77038998	K562	blood:	n/a
14	chr2:77038948-77038998	H1-hESC	embryonic stem cell:	embryo
15	chr2:77038948-77038998	AoSMC	blood vessel:	n/a
16	chr2:77038948-77038998	PFSK-1	brain:	n/a
17	chr2:77038948-77038998	GM19239	blood:	n/a
18	chr2:77038948-77038998	SK-N-SH	brain:	n/a
19	chr2:77038948-77038998	GM12891	blood:	n/a
20	chr2:77038948-77038998	AG09309	skin:	n/a
21	chr2:77038948-77038998	BE2_C	brain:	n/a
22	chr2:77038948-77038998	SK-N-MC	brain:	n/a
23	chr2:77038948-77038998	NHDF-neo	bronchial:	n/a
24	chr2:77038948-77038998	U87	brain:	n/a
25	chr2:77038948-77038998	SKMC	muscle:	n/a
26	chr2:77038948-77038998	HMEC	breast:	n/a
27	chr2:77038948-77038998	Caco-2	colon:	n/a
28	chr2:77038948-77038998	HEEpiC	esophagus:	n/a
29	chr2:77038948-77038998	NB4	blood:	n/a
30	chr2:77038948-77038998	MCF10A-Er-Src	breast:	n/a
31	chr2:77038948-77038998	HRE	kidney:	n/a
32	chr2:77038948-77038998	ProgFib	skin:	n/a
33	chr2:77038948-77038998	HIPEpiC	eye:	n/a
34	chr2:77038948-77038998	SAEC	small airway:	n/a
35	chr2:77038948-77038998	HepG2	liver:	n/a
36	chr2:77038948-77038998	SK-N-SH_RA	brain:	n/a
37	chr2:77038948-77038998	HRPEpiC	eye:	n/a
38	chr2:77038948-77038998	PANC-1	pancreas:	n/a
39	chr2:77038948-77038998	HCF	heart:	n/a
40	chr2:77038948-77038998	HCT-116	colon:	n/a
41	chr2:77038948-77038998	HL-60	blood:	n/a
42	chr2:77038948-77038998	ECC-1	luminal epithelium:	n/a
43	chr2:77038948-77038998	HAEpiC	amniotic membrane:	n/a
44	chr2:77038948-77038998	HNPCEpiC	eye:	n/a
45	chr2:77038948-77038998	HRCEpiC	kidney:	n/a
46	chr2:77038948-77038998	NHBE	bronchial:	n/a
47	chr2:77038948-77038998	Jurkat	blood:	n/a
48	chr2:77038948-77038998	AG04450	lung:	fetal
49	chr2:77038948-77038998	HCPEpiC	choroid plexus:	n/a
50	chr2:77038948-77038998	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
2	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:
3	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:
4	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:

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

Extended variants
information (count: 4022 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4022 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11126561	chr2:76982546-76982547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34333869	chr2:76982549-76982550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574893884	chr2:76982592-76982593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191455467	chr2:76982613-76982614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577207096	chr2:76982622-76982623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540927508	chr2:76982649-76982650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150991653	chr2:76982684-76982685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529886249	chr2:76982685-76982686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548420001	chr2:76982689-76982690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563509852	chr2:76982715-76982716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530599986	chr2:76982755-76982756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552297490	chr2:76982758-76982759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570345257	chr2:76982779-76982780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534622620	chr2:76982818-76982819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547729107	chr2:76982831-76982832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566057416	chr2:76982839-76982840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10186864	chr2:76982894-76982895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs554524340	chr2:76982911-76982912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140810280	chr2:76982943-76982944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537137709	chr2:76982953-76982954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144314902	chr2:76982966-76982967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34443359	chr2:76983003-76983004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577116123	chr2:76983073-76983074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541437571	chr2:76983086-76983087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375481179	chr2:76983097-76983098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574769987	chr2:76983124-76983125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542173081	chr2:76983129-76983130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527489537	chr2:76983159-76983160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184174788	chr2:76983163-76983164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116491009	chr2:76983197-76983198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570546925	chr2:76983210-76983211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188846993	chr2:76983244-76983245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564213412	chr2:76983268-76983269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113635003	chr2:76983290-76983291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546207256	chr2:76983340-76983341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141228073	chr2:76983351-76983352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536541890	chr2:76983357-76983358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181550603	chr2:76983381-76983382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145022860	chr2:76983426-76983427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138718483	chr2:76983456-76983457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114698071	chr2:76983463-76983464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576866556	chr2:76983468-76983469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186210760	chr2:76983562-76983563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190078564	chr2:76983685-76983686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182252914	chr2:76983706-76983707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553381473	chr2:76983708-76983709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149014037	chr2:76983732-76983733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542138048	chr2:76983771-76983772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113059948	chr2:76983781-76983782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1517777	chr2:76983810-76983811	Weak transcription Enhancers	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:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76963800-76985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76973400-76989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:76974800-76986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:76979400-76988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:76982000-76986400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:76982200-76984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:76982200-76984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:76983800-76984600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:76984200-76988600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76984600-76985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:76984600-76985400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:76984600-76986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:76985000-76985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:76985400-76985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:76985400-76986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:76985600-76986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:76985800-76988000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:76986200-76988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:76986400-76986600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:76986400-76986600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:76986400-76987000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:76986600-76987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:76986600-76987600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:76986600-76987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:76986600-76988000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:76986800-76987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:76987000-76987800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:76987200-76987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:76987600-76988000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:76987600-76988400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:76987600-76989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:76987800-76988000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:76987800-76988600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:76987800-76988600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:76988000-76989000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:76988000-76998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:76988200-76990400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:76989200-76989400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:76989200-76989800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:76993800-76994600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:76994600-76998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:76996000-76996600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:76996600-76997200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:76997200-76997400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:76998000-76999000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:76998400-77000600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:76999000-76999200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:77000600-77002000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:77002000-77002400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr2:77002400-77008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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