Variant report

Variant	nsv1036065
Chromosome Location	chr12:74120198-74274062
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	chr12:74128867-74129001	K562	blood:	n/a	n/a
3	BHLHE40	chr12:74163092-74163473	HepG2	liver:	n/a	n/a
4	CBX3	chr12:74195079-74195462	HCT-116	colon:	n/a	n/a
5	CEBPB	chr12:74211006-74211309	K562	blood:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
6	CEBPB	chr12:74190991-74191321	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:74191006-74191336	IMR90	lung:	n/a	n/a
8	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
9	CEBPB	chr12:74146197-74146414	A549	lung:	n/a	n/a
10	CEBPB	chr12:74191001-74191343	A549	lung:	n/a	n/a
11	CEBPB	chr12:74211017-74211328	MCF-7	breast:	n/a	chr12:74211135-74211144 chr12:74211135-74211144 chr12:74211166-74211179 chr12:74211133-74211146 chr12:74211135-74211144
12	CEBPB	chr12:74130762-74131024	IMR90	lung:	n/a	chr12:74130863-74130874
13	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
14	CEBPB	chr12:74218793-74219021	HepG2	liver:	n/a	chr12:74218871-74218882
15	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
16	CEBPB	chr12:74191128-74191271	H1-hESC	embryonic stem cell:	n/a	n/a
17	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
18	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
19	CTCF	chr12:74175351-74175439	GM20000	blood:	n/a	n/a
20	CTCF	chr12:74250503-74250586	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr12:74133020-74133170	GM12873	blood:	n/a	n/a
22	CTCF	chr12:74173060-74173087	Lung_OC	lung:	n/a	n/a
23	CTCF	chr12:74250511-74250576	K562	blood:	n/a	n/a
24	CTCF	chr12:74197551-74197644	Medullo	brain:	n/a	n/a
25	CTCF	chr12:74250502-74250565	GM12878	blood:	n/a	n/a
26	CTCF	chr12:74129185-74129225	GM10248	blood:	n/a	n/a
27	CTCF	chr12:74250492-74250586	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr12:74173713-74173737	GM10248	blood:	n/a	n/a
29	CTCF	chr12:74120160-74120310	GM06990	blood:	n/a	n/a
30	CTCF	chr12:74197540-74197690	HMEC	breast:	n/a	n/a
31	CTCF	chr12:74197520-74197670	HMEC	breast:	n/a	n/a
32	CUX1	chr12:74175681-74175694	GM12878	blood:	n/a	n/a
33	E2F4	chr12:74256624-74256904	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr12:74231277-74231625	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr12:74213438-74213649	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr12:74231863-74232063	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr12:74192424-74192629	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr12:74261079-74261171	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr12:74257294-74257683	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr12:74191311-74191933	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr12:74273531-74273852	GM12878	blood:	n/a	n/a
42	EP300	chr12:74163171-74163511	HepG2	liver:	n/a	n/a
43	EP300	chr12:74163165-74163501	HepG2	liver:	n/a	n/a
44	FAM48A	chr12:74183100-74183190	GM12878	blood:	n/a	n/a
45	FOS	chr12:74192348-74192781	MCF10A-Er-Src	breast:	n/a	chr12:74192514-74192521 chr12:74192509-74192520 chr12:74192513-74192522 chr12:74192513-74192521
46	FOS	chr12:74125535-74125752	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
47	FOS	chr12:74125492-74125725	MCF10A-Er-Src	breast:	n/a	chr12:74125581-74125589 chr12:74125582-74125589 chr12:74125581-74125590 chr12:74125580-74125589
48	FOS	chr12:74257229-74257800	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
49	FOS	chr12:74257320-74257796	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
50	FOS	chr12:74261003-74261228	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74157785..74160249-chr12:74160573..74162864,2	K562	blood:
2	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:
3	chr12:74217471..74219715-chr12:74230543..74232076,2	K562	blood:
4	chr12:74217471..74219715-chr12:74230543..74232076,2	K562	blood:
5	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:
6	chr11:832244..834955-chr12:74130847..74132651,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-3	chr12:74189878-74189940	ENSG00000257750
2	lnc-KCNC2-9	chr12:74174310-74176146	predAs_engstrom06_BX350135_1
3	lnc-ATXN7L3B-3	chr12:74154469-74154540	ENSG00000257750
4	lnc-ATXN7L3B-3	chr12:74161396-74161527	ENSG00000257750
5	lnc-KCNC2-4	chr12:74231887-74231923	ENSG00000258109
6	lnc-ATXN7L3B-3	chr12:74192458-74192507	ENSG00000257750
7	lnc-ATXN7L3B-3	chr12:74165366-74165507	ENSG00000257750

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

Extended variants
information (count: 1203 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1203 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552500314	chr12:74120247-74120248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187298013	chr12:74120250-74120251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538132347	chr12:74120331-74120332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554698376	chr12:74120462-74120463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374009569	chr12:74120466-74120467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7308038	chr12:74120477-74120478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534048715	chr12:74120486-74120487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192449573	chr12:74120501-74120502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151077691	chr12:74120554-74120555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141103243	chr12:74120570-74120571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150281752	chr12:74120589-74120590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569201661	chr12:74120644-74120645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555550708	chr12:74120658-74120659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576706202	chr12:74120664-74120665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369558853	chr12:74120684-74120685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560753475	chr12:74120712-74120713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567087638	chr12:74120815-74120816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372991097	chr12:74120830-74120831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575316276	chr12:74120855-74120856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540337900	chr12:74120862-74120863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139014508	chr12:74120887-74120888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1439986	chr12:74120888-74120889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs552440491	chr12:74120892-74120893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181656775	chr12:74120955-74120956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187167842	chr12:74120976-74120977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557068751	chr12:74120985-74120986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554576319	chr12:74121009-74121010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10785070	chr12:74121018-74121019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78403117	chr12:74121035-74121036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548436825	chr12:74121039-74121040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568378384	chr12:74121059-74121060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533893563	chr12:74121103-74121104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141982985	chr12:74121116-74121117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190219533	chr12:74121122-74121123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35828473	chr12:74121140-74121141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78450542	chr12:74121178-74121179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559275844	chr12:74121191-74121192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539537445	chr12:74121192-74121193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556516728	chr12:74121233-74121234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573491097	chr12:74121274-74121275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182711707	chr12:74121342-74121343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535797662	chr12:74121345-74121346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555993235	chr12:74121393-74121394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145629725	chr12:74121468-74121469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186614687	chr12:74121526-74121527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560179230	chr12:74121552-74121553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577044695	chr12:74121639-74121640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562329946	chr12:74121647-74121648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545891208	chr12:74121651-74121652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562561521	chr12:74121662-74121663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74119000-74121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:74119200-74121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:74119200-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:74119600-74121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:74120600-74121000	Enhancers	Fetal Kidney	kidney
6	chr12:74120800-74121000	Enhancers	HMEC	breast
7	chr12:74120800-74121600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:74121400-74123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:74123600-74123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:74130600-74131000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:74139200-74140000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:74139200-74140800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:74139200-74141000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:74139600-74140000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:74140000-74140200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:74140000-74140600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:74140200-74141400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:74140400-74140600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:74140600-74140800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:74140600-74144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:74144000-74144200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:74160200-74164400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:74161000-74161600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:74161400-74161600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:74161600-74162000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:74161600-74162000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:74161600-74162200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:74161600-74163400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:74162000-74162200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:74162000-74162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:74162200-74162400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:74162200-74162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:74162400-74162600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:74162400-74164200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:74162600-74163000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:74162600-74164000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:74162600-74164400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:74162800-74163200	ZNF genes & repeats	HepG2	liver
39	chr12:74163000-74163400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:74163400-74163800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:74164000-74164200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:74164000-74164200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:74166600-74167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:74173800-74174200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:74192200-74192400	Enhancers	A549	lung
46	chr12:74192200-74192800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:74194800-74195600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr12:74195000-74196200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:74203800-74204000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:74208800-74209200	Enhancers	HUES64 Cell Line	embryonic stem cell

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