Variant report

Variant	nsv1054609
Chromosome Location	chr12:33968178-34078208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:122)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:34046005-34046050	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:33985871-33986186	A549	lung:	n/a	chr12:33986016-33986029 chr12:33986016-33986027 chr12:33986018-33986029
3	CEBPB	chr12:34075788-34076026	A549	lung:	n/a	chr12:34075905-34075916
4	CEBPB	chr12:33985877-33986165	H1-hESC	embryonic stem cell:	n/a	chr12:33986016-33986029 chr12:33986016-33986027 chr12:33986018-33986029
5	CEBPB	chr12:34045385-34045711	HepG2	liver:	n/a	chr12:34045544-34045555
6	CEBPB	chr12:33985858-33986203	K562	blood:	n/a	chr12:33986016-33986029 chr12:33986016-33986027 chr12:33986018-33986029
7	CEBPB	chr12:34035659-34035858	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:34045370-34045733	IMR90	lung:	n/a	chr12:34045544-34045555
9	CEBPB	chr12:34017618-34017682	HepG2	liver:	n/a	chr12:34017650-34017661
10	CEBPB	chr12:33981274-33981584	K562	blood:	n/a	n/a
11	CEBPB	chr12:34045415-34045710	K562	blood:	n/a	chr12:34045544-34045555
12	CEBPB	chr12:34045415-34045716	H1-hESC	embryonic stem cell:	n/a	chr12:34045544-34045555
13	CEBPB	chr12:33985843-33986208	HepG2	liver:	n/a	chr12:33986016-33986029 chr12:33986016-33986027 chr12:33986018-33986029
14	CEBPB	chr12:34017562-34017665	A549	lung:	n/a	chr12:34017650-34017661
15	CEBPB	chr12:34075757-34076029	HepG2	liver:	n/a	chr12:34075905-34075916
16	CEBPB	chr12:34045411-34045695	A549	lung:	n/a	chr12:34045544-34045555
17	CEBPB	chr12:34063911-34064203	HepG2	liver:	n/a	chr12:34064049-34064060
18	CEBPB	chr12:33985801-33986171	IMR90	lung:	n/a	chr12:33986016-33986029 chr12:33986016-33986027 chr12:33986018-33986029
19	CEBPB	chr12:34035721-34035955	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:34035643-34035942	A549	lung:	n/a	n/a
21	CEBPB	chr12:34044510-34044724	HepG2	liver:	n/a	chr12:34044643-34044654 chr12:34044640-34044657
22	CTCF	chr12:34029700-34029850	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:34049424-34049479	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr12:34052443-34052479	GM13976	blood:	n/a	n/a
25	CTCF	chr12:34011520-34011670	HEK293	kidney:	n/a	n/a
26	CTCF	chr12:34029660-34029810	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:34029680-34029830	GM12873	blood:	n/a	n/a
28	CTCF	chr12:34029680-34029830	K562	blood:	n/a	n/a
29	CTCF	chr12:34029680-34029830	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr12:34029640-34029790	NHEK	skin:	n/a	n/a
31	CTCF	chr12:34024460-34024610	Caco-2	colon:	n/a	n/a
32	CTCF	chr12:34067955-34068000	GM13977	blood:	n/a	n/a
33	CTCF	chr12:34029780-34029930	HMEC	breast:	n/a	n/a
34	CTCF	chr12:34029680-34029830	HMEC	breast:	n/a	n/a
35	CTCF	chr12:34029672-34029873	K562	blood:	n/a	n/a
36	CTCF	chr12:34029720-34029870	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr12:34029680-34029830	RPTEC	kidney:	n/a	n/a
38	CTCF	chr12:33972560-33972710	SAEC	small airway:	n/a	n/a
39	CTCF	chr12:34029680-34029830	HCT-116	colon:	n/a	n/a
40	CTCF	chr12:33998119-33998213	GM20000	blood:	n/a	n/a
41	CTCF	chr12:34068097-34068127	LNCaP	prostate:	n/a	n/a
42	CTCF	chr12:34029640-34029790	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr12:34029674-34029802	LNCaP	prostate:	n/a	n/a
44	CTCF	chr12:34061779-34061858	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr12:34029688-34029843	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:34029680-34029830	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:34029860-34030010	A549	lung:	n/a	n/a
48	CTCF	chr12:34029640-34029790	HCT-116	colon:	n/a	n/a
49	CTCF	chr12:34029700-34029850	Caco-2	colon:	n/a	n/a
50	CTCF	chr12:34011600-34011750	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:34061681-34061731	Caco-2	colon:	n/a
2	chr12:34001319-34001369	PANC-1	pancreas:	n/a
3	chr12:34061681-34061731	HRCEpiC	kidney:	n/a
4	chr12:34001319-34001369	H1-hESC	embryonic stem cell:	embryo
5	chr12:34001319-34001369	GM19239	blood:	n/a
6	chr12:34061681-34061731	Hepatocyte	liver:	n/a
7	chr12:34061681-34061731	HUVEC	blood vessel:	n/a
8	chr12:34061681-34061731	GM06990	blood:	n/a
9	chr12:34001319-34001369	PFSK-1	brain:	n/a
10	chr12:34061681-34061731	AG04449	skin:	fetal
11	chr12:34061681-34061731	NHBE	bronchial:	n/a
12	chr12:34001319-34001369	MCF-7	breast:	n/a
13	chr12:34001319-34001369	Hepatocyte	liver:	n/a
14	chr12:34061681-34061731	GM12878	blood:	n/a
15	chr12:34061681-34061731	H1-hESC	embryonic stem cell:	embryo
16	chr12:34001319-34001369	AG09319	gingival:	n/a
17	chr12:34061681-34061731	SAEC	small airway:	n/a
18	chr12:34001319-34001369	GM12892	blood:	n/a
19	chr12:34061681-34061731	HL-60	blood:	n/a
20	chr12:34061681-34061731	U87	brain:	n/a
21	chr12:34001319-34001369	HEK293	kidney:	embryo
22	chr12:34001319-34001369	HCPEpiC	choroid plexus:	n/a
23	chr12:34001319-34001369	GM12878	blood:	n/a
24	chr12:34061681-34061731	NH-A	brain:	n/a
25	chr12:34001319-34001369	NT2-D1	testis:	n/a
26	chr12:34061681-34061731	BE2_C	brain:	n/a
27	chr12:34061681-34061731	Hela-S3	cervix:	n/a
28	chr12:34001319-34001369	IMR90	lung:	fetal
29	chr12:34061681-34061731	HCF	heart:	n/a
30	chr12:34001319-34001369	AoSMC	blood vessel:	n/a
31	chr12:34001319-34001369	CMK	blood:	n/a
32	chr12:34061681-34061731	AG04450	lung:	fetal
33	chr12:34001319-34001369	NHBE	bronchial:	n/a
34	chr12:34061681-34061731	HEEpiC	esophagus:	n/a
35	chr12:34061681-34061731	AoSMC	blood vessel:	n/a
36	chr12:34061681-34061731	HIPEpiC	eye:	n/a
37	chr12:34001319-34001369	NH-A	brain:	n/a
38	chr12:34001319-34001369	Hela-S3	cervix:	n/a
39	chr12:34061681-34061731	ProgFib	skin:	n/a
40	chr12:34061681-34061731	GM12892	blood:	n/a
41	chr12:34001319-34001369	MCF10A-Er-Src	breast:	n/a
42	chr12:34061681-34061731	NT2-D1	testis:	n/a
43	chr12:34001319-34001369	SK-N-MC	brain:	n/a
44	chr12:34061681-34061731	PANC-1	pancreas:	n/a
45	chr12:34001319-34001369	HUVEC	blood vessel:	n/a
46	chr12:34001319-34001369	HCM	heart:	n/a
47	chr12:34061681-34061731	AG10803	skin:	n/a
48	chr12:34001319-34001369	HMEC	breast:	n/a
49	chr12:34061681-34061731	GM12891	blood:	n/a
50	chr12:34001319-34001369	AG09309	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33984638..33987420-chr12:33995374..33998517,3	MCF-7	breast:
2	chr12:34053367..34054987-chr12:34055066..34057564,2	MCF-7	breast:
3	chr12:34009182..34012663-chr12:34013902..34015537,3	MCF-7	breast:
4	chr12:34009182..34012663-chr12:34013902..34015537,3	MCF-7	breast:
5	chr12:33983313..33984854-chr12:33986265..33988102,2	MCF-7	breast:
6	chr12:33990071..33993034-chr8:42750325..42752539,2	MCF-7	breast:
7	chr12:33977547..33980480-chr12:33992605..33994282,2	K562	blood:
8	chr12:33587036..33589098-chr12:33993044..33994546,2	MCF-7	breast:
9	chr12:34017264..34017766-chr13:48856661..48857204,2	MCF-7	breast:
10	chr12:33984638..33987420-chr12:33995374..33998517,3	MCF-7	breast:
11	chr12:33983313..33984854-chr12:33986265..33988102,2	MCF-7	breast:
12	chr12:34008981..34009786-chr2:33211553..33212456,2	MCF-7	breast:
13	chr12:33975803..33979098-chr12:33979674..33983619,4	MCF-7	breast:
14	chr12:33977547..33980480-chr12:33992605..33994282,2	K562	blood:
15	chr12:33975803..33979098-chr12:33979674..33983619,4	MCF-7	breast:
16	chr12:34053367..34054987-chr12:34055066..34057564,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-472P	TF binding region
RNU6-472P	CpG island
ENSG00000266044	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000168172	chromatin interactions

Extended variants
information (count: 927 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370089765	chr12:33972422-33972423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77083999	chr12:33972442-33972443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143736027	chr12:33972529-33972530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192079957	chr12:33972533-33972534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138308642	chr12:33972537-33972538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539588753	chr12:33972547-33972548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572074067	chr12:33972555-33972556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541046643	chr12:33972578-33972579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs559965939	chr12:33972589-33972590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142597496	chr12:33972612-33972613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185359267	chr12:33972650-33972651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs764395	chr12:33972670-33972671	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs554168293	chr12:33972671-33972672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577138242	chr12:33972688-33972689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572470344	chr12:33972689-33972690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551491163	chr12:33972729-33972730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190605604	chr12:33972730-33972731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146005854	chr12:33972737-33972738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534889543	chr12:33972753-33972754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567918853	chr12:33972764-33972765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113496102	chr12:33972765-33972766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs11052938	chr12:33972777-33972778	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113974854	chr12:33977853-33977854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563996513	chr12:33977902-33977903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142957363	chr12:33978010-33978011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74981652	chr12:33978100-33978101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560320729	chr12:33978185-33978186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528965135	chr12:33978211-33978212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78550192	chr12:33978246-33978247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146549543	chr12:33978254-33978255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531283837	chr12:33978285-33978286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574173511	chr12:33978293-33978294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551406508	chr12:33978299-33978300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571961389	chr12:33978330-33978331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141167693	chr12:33978401-33978402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189433998	chr12:33978402-33978403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544856260	chr12:33978426-33978427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371720333	chr12:33978442-33978443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566396559	chr12:33978478-33978479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373602182	chr12:33978484-33978485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191265812	chr12:33978501-33978502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183756423	chr12:33978542-33978543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375147241	chr12:33978544-33978545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113125355	chr12:33978563-33978564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140331540	chr12:33978602-33978603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538635908	chr12:33978686-33978687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571844718	chr12:33978705-33978706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11052943	chr12:33978713-33978714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150343576	chr12:33978728-33978729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540169954	chr12:33978736-33978737	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33972400-33972800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:33977800-33979000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr12:33978000-33979200	Enhancers	HMEC	breast
4	chr12:33978000-33979400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:33978400-33978800	Enhancers	HSMM	muscle
6	chr12:33979000-33979800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:33979000-33980800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:33979200-33983000	Weak transcription	HMEC	breast
9	chr12:33980800-33981000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:33983000-33983400	Enhancers	HMEC	breast
11	chr12:33983400-33986600	Weak transcription	HMEC	breast
12	chr12:33986600-33987200	Enhancers	HMEC	breast
13	chr12:33987200-33988000	Weak transcription	HMEC	breast
14	chr12:33988000-33988200	Enhancers	HMEC	breast
15	chr12:33999800-34000400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:34060400-34063400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:34061200-34062800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:34061200-34062800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:34061400-34062800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:34061400-34062800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:34061400-34063400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:34061600-34062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:34061800-34062000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:34061800-34062800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:34062000-34062400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:34062000-34062800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:34062400-34062600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:34062800-34067600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:34067600-34068000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:34067600-34068000	Enhancers	HUES48 Cell Line	embryonic stem cell

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