Variant report

Variant	esv2754366
Chromosome Location	chr2:212470494-212541494
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	chr2:212529369-212529444	IMR90	lung:	n/a	chr2:212529398-212529409 chr2:212529398-212529407 chr2:212529398-212529407 chr2:212529396-212529409 chr2:212529398-212529407 chr2:212529398-212529407
2	CEBPB	chr2:212503990-212504240	HepG2	liver:	n/a	chr2:212504050-212504061
3	CEBPB	chr2:212480479-212480719	A549	lung:	n/a	chr2:212480626-212480639 chr2:212480628-212480637 chr2:212480626-212480637 chr2:212480628-212480637 chr2:212480628-212480637 chr2:212480628-212480637 chr2:212480627-212480638
4	CEBPB	chr2:212513169-212513391	A549	lung:	n/a	chr2:212513254-212513265
5	CEBPB	chr2:212480454-212480814	HepG2	liver:	n/a	chr2:212480626-212480639 chr2:212480628-212480637 chr2:212480626-212480637 chr2:212480628-212480637 chr2:212480628-212480637 chr2:212480628-212480637 chr2:212480627-212480638
6	CEBPB	chr2:212517116-212517411	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:212530539-212530781	HepG2	liver:	n/a	chr2:212530643-212530654
8	CEBPB	chr2:212513072-212513437	HepG2	liver:	n/a	chr2:212513254-212513265
9	CEBPB	chr2:212535291-212535822	HepG2	liver:	n/a	n/a
10	CTCF	chr2:212485764-212485828	Fibrobl	skin:	n/a	n/a
11	CTCF	chr2:212516760-212516910	HVMF	connective:	n/a	n/a
12	E2F4	chr2:212471157-212471401	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr2:212488660-212488885	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr2:212538454-212538737	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr2:212525299-212525499	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr2:212516991-212517435	T-47D	breast:	n/a	chr2:212517212-212517222 chr2:212517368-212517375
17	ESR1	chr2:212517071-212517471	T-47D	breast:	n/a	n/a
18	ESR1	chr2:212517061-212517437	T-47D	breast:	n/a	n/a
19	ESR1	chr2:212517059-212517409	T-47D	breast:	n/a	n/a
20	FAM48A	chr2:212512441-212512568	GM12878	blood:	n/a	n/a
21	FAM48A	chr2:212473383-212473454	GM12878	blood:	n/a	n/a
22	FAM48A	chr2:212486840-212486889	GM12878	blood:	n/a	n/a
23	FOXA1	chr2:212517015-212517355	T-47D	breast:	n/a	n/a
24	FOXA1	chr2:212517028-212517359	T-47D	breast:	n/a	n/a
25	GATA2	chr2:212521191-212521591	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr2:212516825-212517385	MCF-7	breast:	n/a	n/a
27	GATA3	chr2:212516905-212517511	T-47D	breast:	n/a	n/a
28	GATA3	chr2:212516930-212517504	MCF-7	breast:	n/a	n/a
29	GATA3	chr2:212521233-212521523	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr2:212529653-212529862	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr2:212521163-212521596	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr2:212517029-212517403	T-47D	breast:	n/a	n/a
33	HDAC2	chr2:212517045-212517406	MCF-7	breast:	n/a	chr2:212517221-212517235
34	JUN	chr2:212487850-212488167	HepG2	liver:	n/a	chr2:212487999-212488008 chr2:212487995-212488008
35	JUND	chr2:212516904-212517506	T-47D	breast:	n/a	chr2:212516968-212516980 chr2:212517197-212517206
36	JUND	chr2:212487833-212488174	HepG2	liver:	n/a	chr2:212487999-212488008
37	JUND	chr2:212512839-212513113	HepG2	liver:	n/a	n/a
38	KAP1	chr2:212531266-212531475	K562	blood:	n/a	n/a
39	MAFF	chr2:212488013-212488222	HepG2	liver:	n/a	n/a
40	MAFF	chr2:212536745-212537040	K562	blood:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
41	MAFF	chr2:212482652-212482865	K562	blood:	n/a	chr2:212482719-212482737
42	MAFF	chr2:212511242-212511486	HepG2	liver:	n/a	chr2:212511391-212511409 chr2:212511345-212511363
43	MAFF	chr2:212482553-212482889	HepG2	liver:	n/a	chr2:212482719-212482737
44	MAFF	chr2:212536721-212537082	HepG2	liver:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
45	MAFK	chr2:212488037-212488137	HepG2	liver:	n/a	n/a
46	MAFK	chr2:212487997-212488257	HepG2	liver:	n/a	chr2:212488167-212488178 chr2:212488165-212488179 chr2:212488167-212488178
47	MAFK	chr2:212536725-212537042	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
48	MAFK	chr2:212536822-212537072	Hela-S3	cervix:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
49	MAFK	chr2:212536743-212537023	H1-hESC	embryonic stem cell:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
50	MAFK	chr2:212536795-212537011	K562	blood:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915

Variant related genes	Relation type
ERBB4	TF binding region

Extended variants
information (count: 2660 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2660 , 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	rs191687775	chr2:212470533-212470534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573695737	chr2:212470534-212470535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147506365	chr2:212470554-212470555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552722926	chr2:212470580-212470581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13009894	chr2:212470581-212470582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13027645	chr2:212470585-212470586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1851196	chr2:212470620-212470621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182387602	chr2:212470652-212470653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73078782	chr2:212470681-212470682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528404952	chr2:212470693-212470694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1851197	chr2:212470717-212470718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1851198	chr2:212470740-212470741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140114262	chr2:212470764-212470765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549333837	chr2:212470772-212470773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538835810	chr2:212470776-212470777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565958632	chr2:212470794-212470795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555993628	chr2:212470832-212470833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528349630	chr2:212470840-212470841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557134450	chr2:212470858-212470859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1851199	chr2:212470866-212470867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536282570	chr2:212470956-212470957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375349861	chr2:212470958-212470959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186723690	chr2:212470973-212470974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557228505	chr2:212471007-212471008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567333939	chr2:212471040-212471041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145127729	chr2:212471056-212471057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552899675	chr2:212471106-212471107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572759342	chr2:212471147-212471148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530993644	chr2:212471168-212471169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201655145	chr2:212471172-212471173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397803572	chr2:212471181-212471182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541279706	chr2:212471199-212471200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558025641	chr2:212471245-212471246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577957567	chr2:212471266-212471267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543591720	chr2:212471286-212471287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147599308	chr2:212471440-212471441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148640196	chr2:212471455-212471456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542767283	chr2:212471463-212471464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553387789	chr2:212471468-212471469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41382849	chr2:212471471-212471472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377529119	chr2:212471474-212471475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528493440	chr2:212471484-212471485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551841270	chr2:212471500-212471501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113460140	chr2:212471502-212471503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530854999	chr2:212471503-212471504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550768281	chr2:212471506-212471507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116796154	chr2:212471512-212471513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142035727	chr2:212471541-212471542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546379243	chr2:212471543-212471544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566607452	chr2:212471573-212471574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212456600-212473600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212467200-212480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
4	chr2:212470400-212489600	Weak transcription	Fetal Heart	heart
5	chr2:212473400-212474600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:212473600-212474000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:212473600-212474400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:212473600-212474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:212473600-212474800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:212473600-212476200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:212473800-212474200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:212473800-212474200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:212473800-212474400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:212473800-212474600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:212473800-212474600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:212473800-212474800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:212474200-212474400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:212474400-212475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:212474400-212475400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:212474600-212476000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:212474800-212475200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:212474800-212475200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:212475200-212475600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:212475200-212476400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:212475400-212475600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:212475400-212475600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:212475400-212475600	Enhancers	Dnd41	blood
28	chr2:212475400-212475800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:212475600-212475800	Enhancers	HepG2	liver
30	chr2:212475600-212477400	Flanking Active TSS	Dnd41	blood
31	chr2:212475800-212476200	Active TSS	HepG2	liver
32	chr2:212475800-212476400	Active TSS	Placenta	Placenta
33	chr2:212476000-212476200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:212476000-212476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:212476000-212476400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:212476000-212476400	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:212476000-212476400	Active TSS	Primary T cells from cord blood	blood
38	chr2:212476000-212476400	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:212476000-212476400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:212476000-212476600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:212476000-212476800	Active TSS	Primary T cells fromperipheralblood	blood
42	chr2:212476200-212476400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:212476200-212476600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:212476200-212476600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:212476200-212476600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:212476200-212476600	Flanking Active TSS	HepG2	liver
47	chr2:212476200-212476800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:212476200-212476800	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr2:212476200-212476800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:212476200-212476800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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