Variant report

Variant	esv1811040
Chromosome Location	chr2:189119837-189150420
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	ARID3A	chr2:189150362-189150834	K562	blood:	n/a	n/a
2	BACH1	chr2:189141309-189141345	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:189143463-189143650	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:189145347-189146130	A549	lung:	n/a	n/a
5	CBX3	chr2:189134838-189135154	K562	blood:	n/a	n/a
6	CEBPB	chr2:189130123-189130394	A549	lung:	n/a	chr2:189130243-189130254
7	CEBPB	chr2:189130098-189130429	IMR90	lung:	n/a	chr2:189130243-189130254
8	CEBPB	chr2:189145408-189146055	A549	lung:	n/a	n/a
9	CEBPB	chr2:189141135-189141337	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:189130232-189130374	H1-hESC	embryonic stem cell:	n/a	chr2:189130243-189130254
11	CEBPB	chr2:189147087-189147426	HepG2	liver:	n/a	chr2:189147259-189147270
12	CEBPB	chr2:189147101-189147397	IMR90	lung:	n/a	chr2:189147259-189147270
13	CEBPB	chr2:189145531-189145867	A549	lung:	n/a	n/a
14	CEBPB	chr2:189147125-189147420	A549	lung:	n/a	chr2:189147259-189147270
15	CEBPB	chr2:189138978-189139099	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:189130138-189130423	HepG2	liver:	n/a	chr2:189130243-189130254
17	CEBPB	chr2:189130147-189130431	K562	blood:	n/a	chr2:189130243-189130254
18	CEBPB	chr2:189145482-189145923	A549	lung:	n/a	n/a
19	CEBPB	chr2:189149802-189150264	ECC-1	luminal epithelium:	n/a	n/a
20	CREB1	chr2:189145610-189145901	A549	lung:	n/a	n/a
21	CREB1	chr2:189145677-189145906	A549	lung:	n/a	n/a
22	CTCF	chr2:189147406-189147435	K562	blood:	n/a	n/a
23	CTCF	chr2:189127516-189127556	LNCaP	prostate:	n/a	n/a
24	CTCF	chr2:189146480-189146630	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:189146500-189146650	HMEC	breast:	n/a	n/a
26	CTCF	chr2:189138038-189138078	LNCaP	prostate:	n/a	n/a
27	CTCF	chr2:189147705-189147796	K562	blood:	n/a	n/a
28	CTCF	chr2:189135060-189135210	AG09309	skin:	n/a	n/a
29	E2F4	chr2:189123450-189123647	MCF10A-Er-Src	breast:	n/a	n/a
30	EGR1	chr2:189121190-189121429	K562	blood:	n/a	n/a
31	EGR1	chr2:189121147-189121421	K562	blood:	n/a	n/a
32	EP300	chr2:189145268-189146149	A549	lung:	n/a	n/a
33	EP300	chr2:189149740-189150339	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr2:189133974-189133981	K562	blood:	n/a	n/a
35	EP300	chr2:189145387-189146087	A549	lung:	n/a	n/a
36	FOS	chr2:189136854-189137195	MCF10A-Er-Src	breast:	n/a	chr2:189137003-189137010 chr2:189137002-189137011 chr2:189137003-189137011
37	FOS	chr2:189136886-189137153	MCF10A-Er-Src	breast:	n/a	chr2:189137003-189137010 chr2:189137002-189137011 chr2:189137003-189137011
38	FOS	chr2:189136844-189137188	MCF10A-Er-Src	breast:	n/a	chr2:189137003-189137010 chr2:189137002-189137011 chr2:189137003-189137011
39	FOS	chr2:189136861-189137195	MCF10A-Er-Src	breast:	n/a	chr2:189137003-189137010 chr2:189137002-189137011 chr2:189137003-189137011
40	FOSL2	chr2:189145383-189146001	A549	lung:	n/a	n/a
41	FOXA2	chr2:189145442-189146051	A549	lung:	n/a	chr2:189145708-189145720
42	FOXA2	chr2:189145454-189146151	A549	lung:	n/a	chr2:189145708-189145720
43	FOXM1	chr2:189149751-189150291	ECC-1	luminal epithelium:	n/a	n/a
44	GABPA	chr2:189145487-189145981	A549	lung:	n/a	n/a
45	GATA3	chr2:189145281-189146170	A549	lung:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145379-189145388 chr2:189145856-189145863 chr2:189145856-189145863
46	GATA3	chr2:189145554-189145875	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
47	GATA3	chr2:189140124-189140723	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr2:189145385-189146042	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
49	GATA3	chr2:189145427-189146133	A549	lung:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863
50	GATA3	chr2:189145380-189146217	MCF-7	breast:	n/a	chr2:189145851-189145867 chr2:189145856-189145863 chr2:189145849-189145870 chr2:189145856-189145863 chr2:189145856-189145863

No.	Distal block	Cell Line	Cell type
1	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
2	chr2:188994299..188994907-chr2:189145390..189145988,2	MCF-7	breast:
3	chr2:189145849..189147932-chr2:189157783..189159362,2	MCF-7	breast:
4	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:
5	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:
6	chr2:189146724..189148468-chr2:189151922..189155622,3	K562	blood:
7	chr2:189128910..189130678-chr2:189136126..189138896,2	K562	blood:
8	chr2:189130586..189132324-chr2:189132556..189134479,2	MCF-7	breast:
9	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
10	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
11	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
12	chr2:189133770..189136625-chr2:189150414..189152075,2	K562	blood:
13	chr2:189131302..189133805-chr2:189136850..189139662,2	K562	blood:
14	chr2:189134790..189138324-chr2:189139251..189142315,6	K562	blood:
15	chr2:189128910..189130678-chr2:189136126..189138896,2	K562	blood:
16	chr2:189143598..189145777-chr2:189149493..189151488,2	K562	blood:
17	chr2:189130888..189132704-chr2:189140508..189142906,2	K562	blood:
18	chr2:189133770..189136625-chr2:189150414..189152075,2	K562	blood:
19	chr2:189124068..189125831-chr2:189156259..189158119,2	K562	blood:
20	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
21	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
22	chr2:189127278..189129661-chr2:189156370..189159113,2	MCF-7	breast:
23	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
24	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
25	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
26	chr2:189131012..189132704-chr2:189141406..189144299,2	K562	blood:
27	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
28	chr2:189142080..189146358-chr2:189153937..189158201,5	K562	blood:
29	chr2:189134912..189137217-chr2:189140451..189142233,3	K562	blood:
30	chr2:189149428..189152220-chr2:189152481..189154778,2	K562	blood:
31	chr2:189143598..189145777-chr2:189149493..189151488,2	K562	blood:
32	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
33	chr2:189130586..189132324-chr2:189132556..189134479,2	MCF-7	breast:
34	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:
35	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
36	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
37	chr2:189124068..189126314-chr2:189154943..189157759,2	K562	blood:
38	chr2:189144338..189148147-chr2:189152905..189159423,7	MCF-7	breast:
39	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:
40	chr2:189131302..189133805-chr2:189136850..189139662,2	K562	blood:
41	chr2:189140399..189142820-chr2:189154292..189157242,2	MCF-7	breast:
42	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:

Variant related genes	Relation type
RNA5SP114	TF binding region
ENSG00000207951	chromatin interactions
ENSG00000144366	chromatin interactions
ENSG00000231689	chromatin interactions
ENSG00000200650	chromatin interactions

Extended variants
information (count: 1050 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185179022	chr2:189119899-189119900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559189026	chr2:189119939-189119940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539097429	chr2:189119967-189119968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190057871	chr2:189120078-189120079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34139581	chr2:189120131-189120132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577148747	chr2:189120222-189120223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547893303	chr2:189120244-189120245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566326005	chr2:189120256-189120257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191718575	chr2:189120260-189120261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554975367	chr2:189120326-189120327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141047864	chr2:189120363-189120364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142441567	chr2:189120425-189120426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558494422	chr2:189120478-189120479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576414699	chr2:189120502-189120503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77724191	chr2:189120534-189120535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376840554	chr2:189120588-189120589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574332294	chr2:189120646-189120647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184269925	chr2:189120665-189120666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563437778	chr2:189120670-189120671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188264857	chr2:189120690-189120691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549921674	chr2:189120759-189120760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116278935	chr2:189120780-189120781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532526237	chr2:189120851-189120852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547953929	chr2:189120888-189120889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566140329	chr2:189120925-189120926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536844270	chr2:189120966-189120967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548737807	chr2:189121132-189121133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570269265	chr2:189121159-189121160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67621133	chr2:189121166-189121167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558965578	chr2:189121169-189121170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576475634	chr2:189121193-189121194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73039988	chr2:189121195-189121196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181007358	chr2:189121214-189121215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183829075	chr2:189121274-189121275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574147776	chr2:189121279-189121280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139337388	chr2:189121335-189121336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373729824	chr2:189121379-189121380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557082251	chr2:189121409-189121410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575328799	chr2:189121449-189121450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532233753	chr2:189121529-189121530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546104282	chr2:189121534-189121535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376673164	chr2:189121562-189121563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10175259	chr2:189121592-189121593	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149693425	chr2:189121599-189121600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10199112	chr2:189121644-189121645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10211482	chr2:189121777-189121778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs530183122	chr2:189121787-189121788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375520184	chr2:189121793-189121794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548378033	chr2:189121835-189121836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148438939	chr2:189121922-189121923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189100400-189121200	Weak transcription	K562	blood
2	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
3	chr2:189121200-189121800	Enhancers	K562	blood
4	chr2:189121400-189121600	Enhancers	Aorta	Aorta
5	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
6	chr2:189121800-189147800	Weak transcription	K562	blood
7	chr2:189131000-189131200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:189131600-189140800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:189137200-189140200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189137600-189139800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189137800-189138000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:189137800-189138000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:189138000-189139000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:189138200-189139200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:189138400-189140400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:189138800-189142200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:189139000-189140200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:189139000-189140200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:189139000-189140400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:189139000-189140600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:189139000-189141600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:189139200-189140200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:189139800-189140000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:189139800-189140000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:189140000-189140200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:189140000-189140600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:189140000-189141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189140200-189140400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:189140200-189141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:189140200-189141200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:189140200-189141200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:189140200-189142600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:189140400-189141200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:189140400-189141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:189140400-189141400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:189140600-189141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:189140600-189143200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:189140800-189141000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:189141000-189141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:189141200-189141600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:189141200-189141600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:189141200-189141800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:189141200-189142000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:189141200-189142200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:189141200-189143200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:189141400-189141600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:189141400-189142600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:189141400-189142800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:189141600-189142600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:189141600-189143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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