Variant report

Variant	nsv874320
Chromosome Location	chr2:76971709-77013724
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	chr2:77010682-77010947	A549	lung:	n/a	chr2:77010821-77010838 chr2:77010824-77010835
4	CEBPB	chr2:77010672-77011002	HepG2	liver:	n/a	chr2:77010821-77010838 chr2:77010824-77010835
5	CTCF	chr2:76993800-76993950	GM12865	blood:	n/a	n/a
6	CTCF	chr2:76975903-76975916	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:76988180-76988330	GM12864	blood:	n/a	n/a
8	CTCF	chr2:76975875-76975889	MCF-7	breast:	n/a	n/a
9	E2F4	chr2:76989416-76989575	MCF10A-Er-Src	breast:	n/a	n/a
10	ELK1	chr2:76981971-76982040	GM12878	blood:	n/a	n/a
11	FOS	chr2:76980258-76980443	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:76980242-76980418	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:76980290-76980402	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr2:76975361-76975667	T-47D	breast:	n/a	n/a
15	FOXA1	chr2:76975365-76975671	T-47D	breast:	n/a	n/a
16	FOXA1	chr2:76975353-76975751	HepG2	liver:	n/a	n/a
17	FOXA1	chr2:77008266-77008579	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:76975362-76975629	HepG2	liver:	n/a	n/a
19	FOXA2	chr2:77008298-77008700	A549	lung:	n/a	n/a
20	FOXA2	chr2:77008132-77008656	A549	lung:	n/a	n/a
21	FOXP2	chr2:76977029-76977384	SK-N-MC	brain:	n/a	n/a
22	FOXP2	chr2:77008358-77008556	PFSK-1	brain:	n/a	n/a
23	GATA2	chr2:76993927-76994207	SH-SY5Y	brain:	n/a	n/a
24	GATA2	chr2:77002302-77002883	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr2:77002467-77002890	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr2:76989076-76989168	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr2:76998216-76998224	SH-SY5Y	brain:	n/a	n/a
28	JUND	chr2:76992939-76993011	HepG2	liver:	n/a	chr2:76992977-76992986
29	JUND	chr2:77012996-77013000	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr2:76989654-76989954	HepG2	liver:	n/a	chr2:76989813-76989824
31	MAFF	chr2:76976061-76976394	K562	blood:	n/a	chr2:76976212-76976226 chr2:76976213-76976231
32	MAFF	chr2:76972786-76973085	HepG2	liver:	n/a	n/a
33	MAFF	chr2:76997697-76998007	HepG2	liver:	n/a	chr2:76997830-76997848
34	MAFF	chr2:76976034-76976403	HepG2	liver:	n/a	chr2:76976212-76976226 chr2:76976213-76976231
35	MAFK	chr2:76984694-76984846	HepG2	liver:	n/a	n/a
36	MAFK	chr2:76976051-76976398	HepG2	liver:	n/a	chr2:76976184-76976195 chr2:76976218-76976229 chr2:76976214-76976229 chr2:76976219-76976230 chr2:76976209-76976229 chr2:76976214-76976230 chr2:76976219-76976230 chr2:76976217-76976231
37	MAFK	chr2:76976067-76976353	Hela-S3	cervix:	n/a	chr2:76976184-76976195 chr2:76976218-76976229 chr2:76976214-76976229 chr2:76976219-76976230 chr2:76976209-76976229 chr2:76976214-76976230 chr2:76976219-76976230 chr2:76976217-76976231
38	MAFK	chr2:76997736-76998012	HepG2	liver:	n/a	chr2:76997831-76997846 chr2:76997835-76997846 chr2:76997835-76997846 chr2:76997834-76997848
39	MAFK	chr2:76997787-76997963	IMR90	lung:	n/a	chr2:76997831-76997846 chr2:76997835-76997846 chr2:76997835-76997846 chr2:76997834-76997848
40	MAFK	chr2:76987335-76987508	HepG2	liver:	n/a	n/a
41	MAFK	chr2:76974878-76974982	HepG2	liver:	n/a	n/a
42	MAFK	chr2:76972823-76972959	K562	blood:	n/a	chr2:76972922-76972939
43	MAFK	chr2:77013392-77013575	HepG2	liver:	n/a	chr2:77013485-77013505
44	MAFK	chr2:76976035-76976401	HepG2	liver:	n/a	chr2:76976184-76976195 chr2:76976218-76976229 chr2:76976214-76976229 chr2:76976219-76976230 chr2:76976209-76976229 chr2:76976214-76976230 chr2:76976219-76976230 chr2:76976217-76976231
45	MAFK	chr2:77013485-77013516	HepG2	liver:	n/a	chr2:77013485-77013505
46	MAFK	chr2:76972778-76973080	IMR90	lung:	n/a	chr2:76972922-76972939
47	MAFK	chr2:76976076-76976395	K562	blood:	n/a	chr2:76976184-76976195 chr2:76976218-76976229 chr2:76976214-76976229 chr2:76976219-76976230 chr2:76976209-76976229 chr2:76976214-76976230 chr2:76976219-76976230 chr2:76976217-76976231
48	MAFK	chr2:76997680-76998017	HepG2	liver:	n/a	chr2:76997831-76997846 chr2:76997835-76997846 chr2:76997835-76997846 chr2:76997834-76997848
49	MAFK	chr2:76972786-76973092	HepG2	liver:	n/a	chr2:76972922-76972939
50	MAFK	chr2:76972757-76973105	HepG2	liver:	n/a	chr2:76972922-76972939

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76975220-76975270	A549	lung:	n/a
2	chr2:76975220-76975270	NT2-D1	testis:	n/a
3	chr2:76975220-76975270	Hela-S3	cervix:	n/a
4	chr2:76975220-76975270	SK-N-MC	brain:	n/a
5	chr2:76975220-76975270	AG10803	skin:	n/a
6	chr2:76975220-76975270	HL-60	blood:	n/a
7	chr2:76975220-76975270	HNPCEpiC	eye:	n/a
8	chr2:76975220-76975270	HUVEC	blood vessel:	n/a
9	chr2:76975220-76975270	HRE	kidney:	n/a
10	chr2:76975220-76975270	AG09319	gingival:	n/a
11	chr2:76975220-76975270	MCF-7	breast:	n/a
12	chr2:76975220-76975270	NH-A	brain:	n/a
13	chr2:76975220-76975270	GM12892	blood:	n/a
14	chr2:76975220-76975270	H1-hESC	embryonic stem cell:	embryo
15	chr2:76975220-76975270	HRPEpiC	eye:	n/a
16	chr2:76975220-76975270	LNCaP	prostate:	n/a
17	chr2:76975220-76975270	CMK	blood:	n/a
18	chr2:76975220-76975270	AoSMC	blood vessel:	n/a
19	chr2:76975220-76975270	AG09309	skin:	n/a
20	chr2:76975220-76975270	HCM	heart:	n/a
21	chr2:76975220-76975270	HCT-116	colon:	n/a
22	chr2:76975220-76975270	MCF10A-Er-Src	breast:	n/a
23	chr2:76975220-76975270	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:76975220-76975270	HEEpiC	esophagus:	n/a
25	chr2:76975220-76975270	ProgFib	skin:	n/a
26	chr2:76975220-76975270	NB4	blood:	n/a
27	chr2:76975220-76975270	AG04450	lung:	fetal
28	chr2:76975220-76975270	HAEpiC	amniotic membrane:	n/a
29	chr2:76975220-76975270	SAEC	small airway:	n/a
30	chr2:76975220-76975270	NHBE	bronchial:	n/a
31	chr2:76975220-76975270	HMEC	breast:	n/a
32	chr2:76975220-76975270	RPTEC	kidney:	n/a
33	chr2:76975220-76975270	T-47D	breast:	n/a
34	chr2:76975220-76975270	BE2_C	brain:	n/a
35	chr2:76975220-76975270	K562	blood:	n/a
36	chr2:76975220-76975270	Caco-2	colon:	n/a
37	chr2:76975220-76975270	PrEC	prostate:	n/a
38	chr2:76975220-76975270	U87	brain:	n/a
39	chr2:76975220-76975270	ovcar-3	ovarian:	n/a
40	chr2:76975220-76975270	PFSK-1	brain:	n/a
41	chr2:76975220-76975270	HRCEpiC	kidney:	n/a
42	chr2:76975220-76975270	HEK293	kidney:	embryo
43	chr2:76975220-76975270	GM19239	blood:	n/a
44	chr2:76975220-76975270	HepG2	liver:	n/a
45	chr2:76975220-76975270	Jurkat	blood:	n/a
46	chr2:76975220-76975270	PANC-1	pancreas:	n/a
47	chr2:76975220-76975270	BJ	skin:	n/a
48	chr2:76975220-76975270	SK-N-SH	brain:	n/a
49	chr2:76975220-76975270	Hepatocyte	liver:	n/a
50	chr2:76975220-76975270	HCPEpiC	choroid plexus:	n/a

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

Extended variants
information (count: 2151 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2151 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10202431	chr2:76971709-76971710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2056213	chr2:76971741-76971742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181156569	chr2:76971759-76971760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553147673	chr2:76971764-76971765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569862300	chr2:76971786-76971787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2139503	chr2:76971790-76971791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537206108	chr2:76971799-76971800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552426090	chr2:76971844-76971845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186593482	chr2:76971846-76971847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150215789	chr2:76971849-76971850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191393415	chr2:76971859-76971860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115345554	chr2:76971883-76971884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574372909	chr2:76971908-76971909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57443921	chr2:76971915-76971916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555195541	chr2:76971933-76971934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576685912	chr2:76971955-76971956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543575160	chr2:76971966-76971967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565119838	chr2:76971974-76971975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539476033	chr2:76971976-76971977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183840851	chr2:76971998-76971999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187852589	chr2:76972014-76972015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114921486	chr2:76972026-76972027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35557837	chr2:76972067-76972068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191163523	chr2:76972090-76972091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575963268	chr2:76972096-76972097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13425862	chr2:76972139-76972140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541862950	chr2:76972166-76972167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4853268	chr2:76972172-76972173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530844693	chr2:76972208-76972209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567494225	chr2:76972309-76972310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182180436	chr2:76972346-76972347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144841619	chr2:76972405-76972406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386647534	chr2:76972423-76972424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4853269	chr2:76972429-76972430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535399898	chr2:76972538-76972539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372000335	chr2:76972622-76972623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556698228	chr2:76972625-76972626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186668977	chr2:76972631-76972632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537323661	chr2:76972652-76972653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558868221	chr2:76972695-76972696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9973885	chr2:76972715-76972716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559461304	chr2:76972789-76972790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192741674	chr2:76972813-76972814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368711808	chr2:76972842-76972843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553386498	chr2:76972852-76972853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144538051	chr2:76972854-76972855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574861436	chr2:76972863-76972864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542174675	chr2:76972913-76972914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143052506	chr2:76972916-76972917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530956564	chr2:76972930-76972931	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76960800-76974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:76963800-76985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:76973400-76989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:76974600-76974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:76974800-76986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:76976800-76977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:76976800-76977400	Enhancers	Dnd41	blood
8	chr2:76977000-76977600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:76977200-76977400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:76977600-76981800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:76978600-76979400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:76979400-76988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:76979600-76980600	Enhancers	Fetal Heart	heart
14	chr2:76981600-76981800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:76981600-76982200	Enhancers	Gastric	stomach
16	chr2:76981800-76982000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:76981800-76982200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:76982000-76982200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:76982000-76986400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:76982200-76984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:76982200-76984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:76983800-76984600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:76984200-76988600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:76984600-76985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:76984600-76985400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:76984600-76986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:76985000-76985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:76985400-76985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:76985400-76986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:76985600-76986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:76985800-76988000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:76986200-76988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:76986400-76986600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr2:76986400-76986600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:76986400-76987000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:76986600-76987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:76986600-76987600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:76986600-76987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:76986600-76988000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:76986800-76987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:76987000-76987800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:76987200-76987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:76987600-76988000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:76987600-76988400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:76987600-76989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:76987800-76988000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:76987800-76988600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:76987800-76988600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:76988000-76989000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:76988000-76998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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