Variant report

Variant	nsv1042495
Chromosome Location	chr12:74080586-74341905
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	chr12:74163177-74163418	HepG2	liver:	n/a	n/a
2	ATF1	chr12:74282572-74282667	K562	blood:	n/a	n/a
3	ATF1	chr12:74119709-74119780	K562	blood:	n/a	n/a
4	ATF1	chr12:74128867-74129001	K562	blood:	n/a	n/a
5	BHLHE40	chr12:74163092-74163473	HepG2	liver:	n/a	n/a
6	CBX3	chr12:74195079-74195462	HCT-116	colon:	n/a	n/a
7	CEBPB	chr12:74210956-74211329	A549	lung:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74210965-74210978 chr12:74211135-74211144
8	CEBPB	chr12:74191128-74191271	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:74306054-74306134	K562	blood:	n/a	n/a
10	CEBPB	chr12:74328114-74328196	HepG2	liver:	n/a	chr12:74328137-74328148 chr12:74328137-74328150 chr12:74328138-74328149
11	CEBPB	chr12:74218793-74219021	HepG2	liver:	n/a	chr12:74218871-74218882
12	CEBPB	chr12:74210959-74211325	IMR90	lung:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74210965-74210978 chr12:74211135-74211144
13	CEBPB	chr12:74130762-74131024	IMR90	lung:	n/a	chr12:74130863-74130874
14	CEBPB	chr12:74191006-74191336	IMR90	lung:	n/a	n/a
15	CEBPB	chr12:74287654-74287786	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr12:74190991-74191321	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:74328118-74328249	A549	lung:	n/a	chr12:74328137-74328148 chr12:74328137-74328150 chr12:74328138-74328149
18	CEBPB	chr12:74211006-74211309	K562	blood:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
19	CEBPB	chr12:74146197-74146414	A549	lung:	n/a	n/a
20	CEBPB	chr12:74211017-74211328	MCF-7	breast:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
21	CEBPB	chr12:74211002-74211280	ECC-1	luminal epithelium:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
22	CEBPB	chr12:74287777-74287783	K562	blood:	n/a	n/a
23	CEBPB	chr12:74210954-74211331	HepG2	liver:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74210965-74210978 chr12:74211135-74211144
24	CEBPB	chr12:74306033-74306199	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:74340620-74340772	HepG2	liver:	n/a	chr12:74340726-74340737
26	CEBPB	chr12:74191001-74191343	A549	lung:	n/a	n/a
27	CEBPB	chr12:74211018-74211307	H1-hESC	embryonic stem cell:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
28	CEBPB	chr12:74286000-74286226	A549	lung:	n/a	n/a
29	CEBPB	chr12:74333490-74333716	HepG2	liver:	n/a	chr12:74333596-74333607
30	CTCF	chr12:74329597-74329832	A549	lung:	n/a	n/a
31	CTCF	chr12:74250511-74250576	K562	blood:	n/a	n/a
32	CTCF	chr12:74329680-74329830	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:74175351-74175439	GM20000	blood:	n/a	n/a
34	CTCF	chr12:74300813-74300815	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:74096060-74096210	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr12:74329600-74329750	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:74329640-74329790	GM12871	blood:	n/a	n/a
38	CTCF	chr12:74329640-74329790	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr12:74329600-74329750	K562	blood:	n/a	n/a
40	CTCF	chr12:74197551-74197644	Medullo	brain:	n/a	n/a
41	CTCF	chr12:74102473-74102544	GM10248	blood:	n/a	n/a
42	CTCF	chr12:74250492-74250586	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr12:74329636-74329796	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr12:74329620-74329770	HMF	breast:	n/a	n/a
45	CTCF	chr12:74329660-74329810	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr12:74329640-74329790	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr12:74329640-74329790	HepG2	liver:	n/a	n/a
48	CTCF	chr12:74329620-74329901	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:74329413-74329936	HCT-116	colon:	n/a	n/a
50	CTCF	chr12:74329660-74329810	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74329268..74329785-chr12:74806142..74806934,2	K562	blood:
2	chr12:74338246..74340293-chr17:57922225..57924227,2	MCF-7	breast:
3	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
4	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:
5	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:
6	chr12:74300999..74303492-chr12:74306818..74309570,2	K562	blood:
7	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:
8	chr12:74217471..74219715-chr12:74230543..74232076,2	K562	blood:
9	chr11:832244..834955-chr12:74130847..74132651,2	MCF-7	breast:
10	chr12:73777376..73778236-chr12:74310356..74311136,2	MCF-7	breast:
11	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
12	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:
13	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:
14	chr12:74300999..74303492-chr12:74306818..74309570,2	K562	blood:
15	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:
16	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:
17	chr12:74217471..74219715-chr12:74230543..74232076,2	K562	blood:
18	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:
19	chr12:74157785..74160249-chr12:74160573..74162864,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-2	chr12:74312978-74313300	XLOC_009804
2	lnc-ATXN7L3B-2	chr12:74307737-74307803	ENSG00000257587
3	lnc-KCNC2-4	chr12:74231887-74231923	ENSG00000258109
4	lnc-ATXN7L3B-3	chr12:74189878-74189940	ENSG00000257750
5	lnc-ATXN7L3B-2	chr12:74310012-74310064	XLOC_009804
6	lnc-ATXN7L3B-3	chr12:74161396-74161527	ENSG00000257750
7	lnc-ATXN7L3B-2	chr12:74300720-74300854	ENSG00000257587
8	lnc-ATXN7L3B-3	chr12:74165366-74165507	ENSG00000257750
9	lnc-ATXN7L3B-3	chr12:74154469-74154540	ENSG00000257750
10	lnc-KCNC2-4	chr12:74335897-74335956	ENSG00000258109
11	lnc-ATXN7L3B-3	chr12:74192458-74192507	ENSG00000257750
12	lnc-ATXN7L3B-2	chr12:74312978-74313117	ENSG00000257587
13	lnc-KCNC2-9	chr12:74174310-74176146	predAs_engstrom06_BX350135_1

Variant related genes	Relation type
ENSG00000257750	TF binding region
ENSG00000257587	TF binding region
ENSG00000201809	TF binding region
ENSG00000272231	TF binding region
ENSG00000255108	chromatin interactions
ENSG00000201809	chromatin interactions
ENSG00000177697	chromatin interactions
PLXNB2	miRNA target sites
PPP6C	miRNA target sites

Extended variants
information (count: 2274 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2274 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147546042	chr12:74107207-74107208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148162079	chr12:74107209-74107210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571635442	chr12:74107212-74107213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541918572	chr12:74107215-74107216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187218696	chr12:74107227-74107228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192179878	chr12:74107228-74107229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183854711	chr12:74107315-74107316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534522071	chr12:74107318-74107319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188198592	chr12:74107350-74107351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532140562	chr12:74107363-74107364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551838323	chr12:74107387-74107388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192760619	chr12:74107402-74107403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10879664	chr12:74107408-74107409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11179754	chr12:74107434-74107435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374731234	chr12:74107442-74107443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533722625	chr12:74107446-74107447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578244992	chr12:74107500-74107501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141853691	chr12:74107501-74107502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535869352	chr12:74107513-74107514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12311452	chr12:74107521-74107522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184449439	chr12:74107522-74107523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11610704	chr12:74107560-74107561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12311462	chr12:74107580-74107581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576065440	chr12:74107644-74107645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372389183	chr12:74107658-74107659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139790432	chr12:74107673-74107674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10879665	chr12:74107680-74107681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189325916	chr12:74107684-74107685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368032939	chr12:74107711-74107712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117357176	chr12:74107725-74107726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578218849	chr12:74107762-74107763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544116912	chr12:74107773-74107774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540605953	chr12:74107796-74107797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562500124	chr12:74107849-74107850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531312893	chr12:74107856-74107857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10785067	chr12:74107895-74107896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561735567	chr12:74107914-74107915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144402249	chr12:74107918-74107919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529994980	chr12:74107923-74107924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143651745	chr12:74107924-74107925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575403904	chr12:74107962-74107963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192374408	chr12:74107986-74107987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7973885	chr12:74108000-74108001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549650785	chr12:74108017-74108018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569736239	chr12:74108083-74108084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146244154	chr12:74108128-74108129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555450279	chr12:74108166-74108167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539479341	chr12:74108172-74108173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565991131	chr12:74108175-74108176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535112796	chr12:74108241-74108242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74107200-74107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:74107400-74108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:74108400-74108800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:74108800-74110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:74109600-74110000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:74110000-74110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:74110200-74110400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:74110400-74110600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:74110600-74119000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:74119000-74121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:74119200-74121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:74119200-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:74119600-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:74120600-74121000	Enhancers	Fetal Kidney	kidney
15	chr12:74120800-74121000	Enhancers	HMEC	breast
16	chr12:74120800-74121600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:74121400-74123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:74123600-74123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:74130600-74131000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:74139200-74140000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:74139200-74140800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:74139200-74141000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:74139600-74140000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:74140000-74140200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:74140000-74140600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:74140200-74141400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:74140400-74140600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:74140600-74140800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:74140600-74144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:74144000-74144200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:74160200-74164400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:74161000-74161600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:74161400-74161600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr12:74161600-74162000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:74161600-74162000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:74161600-74162200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:74161600-74163400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:74162000-74162200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:74162000-74162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:74162200-74162400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:74162200-74162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:74162400-74162600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:74162400-74164200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:74162600-74163000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:74162600-74164000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:74162600-74164400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:74162800-74163200	ZNF genes & repeats	HepG2	liver
48	chr12:74163000-74163400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:74163400-74163800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:74164000-74164200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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