Variant report

Variant	nsv899279
Chromosome Location	chr12:74010790-74072269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:62)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:74053673-74053952	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr12:74021381-74021691	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:74028246-74028499	A549	lung:	n/a	chr12:74028348-74028359
4	CEBPB	chr12:74035798-74036052	A549	lung:	n/a	n/a
5	CEBPB	chr12:74022772-74023062	HepG2	liver:	n/a	chr12:74022915-74022926
6	CEBPB	chr12:74031940-74031970	A549	lung:	n/a	n/a
7	CEBPB	chr12:74028234-74028479	HepG2	liver:	n/a	chr12:74028348-74028359
8	CEBPB	chr12:74021361-74021622	IMR90	lung:	n/a	n/a
9	CEBPB	chr12:74021476-74021558	A549	lung:	n/a	n/a
10	CTCF	chr12:74050341-74050432	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:74023820-74023970	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr12:74050260-74050410	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr12:74050139-74050519	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:74050240-74050390	HEK293	kidney:	n/a	n/a
15	CTCF	chr12:74023840-74023990	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr12:74050372-74050402	Fibrobl	skin:	n/a	n/a
17	CTCF	chr12:74023720-74023870	RPTEC	kidney:	n/a	n/a
18	CTCF	chr12:74023740-74023890	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr12:74050340-74050490	HCT-116	colon:	n/a	n/a
20	CTCF	chr12:74023780-74023930	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr12:74050260-74050410	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr12:74050317-74050438	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:74052511-74052528	HepG2	liver:	n/a	n/a
24	CTCF	chr12:74023740-74023890	HCT-116	colon:	n/a	n/a
25	CTCF	chr12:74023700-74023850	RPTEC	kidney:	n/a	n/a
26	CTCF	chr12:74065480-74065553	Lung_OC	lung:	n/a	n/a
27	CTCF	chr12:74050296-74050452	Gliobla	brain:	n/a	n/a
28	CTCF	chr12:74050275-74050479	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:74050280-74050430	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:74050240-74050390	HCT-116	colon:	n/a	n/a
31	CTCF	chr12:74023740-74023890	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr12:74050300-74050450	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:74039140-74039290	GM12868	blood:	n/a	n/a
34	CTCF	chr12:74050329-74050430	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:74050227-74050497	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr12:74023780-74023930	HMEC	breast:	n/a	n/a
37	CTCF	chr12:74050296-74050469	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:74050293-74050485	MCF-7	breast:	n/a	n/a
39	E2F4	chr12:74063708-74063822	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr12:74033553-74033656	MCF10A-Er-Src	breast:	n/a	n/a
41	EP300	chr12:74035261-74035344	GM12878	blood:	n/a	n/a
42	FOS	chr12:74033400-74033426	MCF10A-Er-Src	breast:	n/a	n/a
43	FOSL2	chr12:74072157-74072623	MCF-7	breast:	n/a	n/a
44	FOXA1	chr12:74065475-74065763	HepG2	liver:	n/a	n/a
45	FOXA1	chr12:74065409-74065620	T-47D	breast:	n/a	n/a
46	FOXA1	chr12:74065431-74065629	T-47D	breast:	n/a	n/a
47	FOXA2	chr12:74065265-74065776	A549	lung:	n/a	n/a
48	GATA3	chr12:74072150-74072692	MCF-7	breast:	n/a	n/a
49	GATA3	chr12:74072040-74072723	MCF-7	breast:	n/a	n/a
50	GATA3	chr12:74037298-74037445	SH-SY5Y	brain:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:74072114-74072164	GM12878	blood:	n/a
2	chr12:74072114-74072164	GM12878	blood:	n/a
3	chr12:74072114-74072164	T-47D	breast:	n/a
4	chr12:74072114-74072164	Hela-S3	cervix:	n/a
5	chr12:74072114-74072164	HCT-116	colon:	n/a
6	chr12:74072114-74072164	AG09309	skin:	n/a
7	chr12:74072114-74072164	SK-N-SH_RA	brain:	n/a
8	chr12:74072114-74072164	MCF-7	breast:	n/a
9	chr12:74072114-74072164	SAEC	small airway:	n/a
10	chr12:74072114-74072164	BJ	skin:	n/a
11	chr12:74072114-74072164	NHBE	bronchial:	n/a
12	chr12:74072114-74072164	NB4	blood:	n/a
13	chr12:74072114-74072164	AG04449	skin:	fetal
14	chr12:74072114-74072164	ECC-1	luminal epithelium:	n/a
15	chr12:74072114-74072164	HRE	kidney:	n/a
16	chr12:74072114-74072164	HEEpiC	esophagus:	n/a
17	chr12:74072114-74072164	HRPEpiC	eye:	n/a
18	chr12:74072114-74072164	HEK293	kidney:	embryo
19	chr12:74072114-74072164	NHDF-neo	bronchial:	n/a
20	chr12:74072114-74072164	AG09319	gingival:	n/a
21	chr12:74072114-74072164	SKMC	muscle:	n/a
22	chr12:74072114-74072164	HNPCEpiC	eye:	n/a
23	chr12:74072114-74072164	Caco-2	colon:	n/a
24	chr12:74072114-74072164	GM12892	blood:	n/a
25	chr12:74072114-74072164	ProgFib	skin:	n/a
26	chr12:74072114-74072164	CMK	blood:	n/a
27	chr12:74072114-74072164	ovcar-3	ovarian:	n/a
28	chr12:74072114-74072164	AG10803	skin:	n/a
29	chr12:74072114-74072164	SK-N-SH	brain:	n/a
30	chr12:74072114-74072164	A549	lung:	n/a
31	chr12:74072114-74072164	HepG2	liver:	n/a
32	chr12:74072114-74072164	PrEC	prostate:	n/a
33	chr12:74072114-74072164	NH-A	brain:	n/a
34	chr12:74072114-74072164	HL-60	blood:	n/a
35	chr12:74072114-74072164	HCF	heart:	n/a
36	chr12:74072114-74072164	HIPEpiC	eye:	n/a
37	chr12:74072114-74072164	BE2_C	brain:	n/a
38	chr12:74072114-74072164	PFSK-1	brain:	n/a
39	chr12:74072114-74072164	LNCaP	prostate:	n/a
40	chr12:74072114-74072164	HRCEpiC	kidney:	n/a
41	chr12:74072114-74072164	K562	blood:	n/a
42	chr12:74072114-74072164	PANC-1	pancreas:	n/a
43	chr12:74072114-74072164	HUVEC	blood vessel:	n/a
44	chr12:74072114-74072164	H1-hESC	embryonic stem cell:	embryo
45	chr12:74072114-74072164	GM12891	blood:	n/a
46	chr12:74072114-74072164	U87	brain:	n/a
47	chr12:74072114-74072164	IMR90	lung:	fetal
48	chr12:74072114-74072164	AG04450	lung:	fetal
49	chr12:74072114-74072164	RPTEC	kidney:	n/a
50	chr12:74072114-74072164	NT2-D1	testis:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74035671..74038050-chr12:74931309..74933975,2	K562	blood:
2	chr12:74013871..74015768-chr12:74016739..74019231,2	MCF-7	breast:
3	chr12:73908195..73908905-chr12:74049929..74050461,2	MCF-7	breast:
4	chr12:74008618..74010272-chr12:74013442..74015238,2	K562	blood:
5	chr12:74013871..74015768-chr12:74016739..74019231,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243164	TF binding region
ENSG00000243164	CpG island
ENSG00000257386	chromatin interactions
ENSG00000253719	chromatin interactions

Extended variants
information (count: 1319 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2044248	chr12:74010790-74010791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80031291	chr12:74010796-74010797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563986448	chr12:74010805-74010806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538018273	chr12:74010816-74010817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145624806	chr12:74010923-74010924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79479225	chr12:74010934-74010935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569218483	chr12:74010945-74010946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527422970	chr12:74010949-74010950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142317314	chr12:74010993-74010994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570267990	chr12:74011012-74011013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142269786	chr12:74011015-74011016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35460987	chr12:74011022-74011023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549632573	chr12:74011058-74011059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34143342	chr12:74011104-74011105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558509115	chr12:74011113-74011114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11837184	chr12:74011123-74011124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7958892	chr12:74011204-74011205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555769866	chr12:74011246-74011247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565948448	chr12:74011257-74011258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535069863	chr12:74011281-74011282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34590819	chr12:74011284-74011285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558305292	chr12:74011285-74011286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543858380	chr12:74011288-74011289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17112550	chr12:74011378-74011379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373115502	chr12:74011543-74011544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544064804	chr12:74011623-74011624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557665197	chr12:74011624-74011625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202202007	chr12:74011650-74011651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193229928	chr12:74011671-74011672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560659016	chr12:74011683-74011684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35832352	chr12:74011686-74011687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185686814	chr12:74011748-74011749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538135038	chr12:74011867-74011868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188800200	chr12:74011915-74011916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140489011	chr12:74011959-74011960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529808219	chr12:74011960-74011961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17112553	chr12:74011985-74011986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192185700	chr12:74012029-74012030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2730492	chr12:74012068-74012069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs369869579	chr12:74012084-74012085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183810080	chr12:74012098-74012099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115074672	chr12:74012104-74012105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566035664	chr12:74012136-74012137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542955624	chr12:74012207-74012208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112782771	chr12:74012234-74012235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150356924	chr12:74012250-74012251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551888750	chr12:74012277-74012278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137996104	chr12:74012282-74012283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188583934	chr12:74012300-74012301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567916888	chr12:74012331-74012332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74010400-74011400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74010600-74011000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:74011400-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:74017200-74017600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:74017600-74018600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:74018600-74019000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:74019000-74020600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:74020600-74021000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:74022800-74023000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:74022800-74023200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:74022800-74023200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:74022800-74024000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:74023000-74023600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:74023000-74023800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:74023000-74024000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:74023000-74024000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:74023000-74024200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:74023200-74024000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:74023200-74024600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:74023200-74025400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:74023600-74025600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:74023800-74024200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:74024000-74024200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr12:74024000-74024400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:74024000-74024600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:74024000-74024800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:74024000-74024800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:74024200-74024400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:74024200-74024600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:74024200-74024800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:74024200-74027000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:74024400-74024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:74024400-74025800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:74024600-74024800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:74024600-74025000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:74024600-74025200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:74024600-74026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:74024800-74025200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:74024800-74025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:74024800-74025600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:74024800-74025800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:74025000-74026000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:74025200-74025600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:74025400-74025800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:74025600-74026600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:74026400-74026800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:74026600-74026800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:74029200-74029600	Active TSS	Fetal Muscle Trunk	muscle
49	chr12:74029200-74030200	Active TSS	Fetal Muscle Leg	muscle
50	chr12:74037600-74039200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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