Variant report

Variant	nsv832461
Chromosome Location	chr12:75279973-75433102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:849)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:75357490-75357930	HepG2	liver:	n/a	chr12:75357565-75357581
2	ARID3A	chr12:75284026-75284278	HepG2	liver:	n/a	n/a
3	ATF2	chr12:75283716-75284334	GM12878	blood:	n/a	n/a
4	ATF2	chr12:75283888-75284280	GM12878	blood:	n/a	n/a
5	ATF3	chr12:75283308-75284322	A549	lung:	n/a	n/a
6	BACH1	chr12:75297792-75297930	K562	blood:	n/a	n/a
7	BATF	chr12:75347120-75347412	GM12878	blood:	n/a	chr12:75347228-75347239
8	BATF	chr12:75347121-75347410	GM12878	blood:	n/a	chr12:75347228-75347239
9	BATF	chr12:75404925-75405209	GM12878	blood:	n/a	n/a
10	BATF	chr12:75283643-75284266	GM12878	blood:	n/a	n/a
11	BATF	chr12:75283943-75284215	GM12878	blood:	n/a	n/a
12	BCL11A	chr12:75404926-75405216	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:75283967-75284241	GM12878	blood:	n/a	chr12:75284139-75284148 chr12:75284138-75284147
14	BCL3	chr12:75283699-75284307	GM12878	blood:	n/a	chr12:75284139-75284148 chr12:75284138-75284147
15	BCL3	chr12:75357313-75357888	A549	lung:	n/a	chr12:75357465-75357472
16	BRCA1	chr12:75350459-75350477	GM12878	blood:	n/a	n/a
17	BRCA1	chr12:75374381-75374522	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr12:75299991-75300345	HCT-116	colon:	n/a	n/a
19	CBX3	chr12:75283962-75284457	HCT-116	colon:	n/a	n/a
20	CCNT2	chr12:75353270-75353589	K562	blood:	n/a	n/a
21	CEBPB	chr12:75285073-75285444	Hela-S3	cervix:	n/a	chr12:75285310-75285327
22	CEBPB	chr12:75377613-75377889	A549	lung:	n/a	n/a
23	CEBPB	chr12:75279104-75280088	A549	lung:	n/a	chr12:75279283-75279294 chr12:75279752-75279763
24	CEBPB	chr12:75347555-75347798	HepG2	liver:	n/a	chr12:75347699-75347710 chr12:75347718-75347729
25	CEBPB	chr12:75292820-75293140	IMR90	lung:	n/a	n/a
26	CEBPB	chr12:75353558-75353863	A549	lung:	n/a	n/a
27	CEBPB	chr12:75357386-75358081	A549	lung:	n/a	chr12:75357776-75357789
28	CEBPB	chr12:75374363-75374734	MCF-7	breast:	n/a	chr12:75374472-75374483 chr12:75374472-75374483
29	CEBPB	chr12:75367062-75367374	HepG2	liver:	n/a	chr12:75367353-75367366
30	CEBPB	chr12:75357549-75358067	A549	lung:	n/a	chr12:75357776-75357789
31	CEBPB	chr12:75353734-75353752	IMR90	lung:	n/a	n/a
32	CEBPB	chr12:75279636-75279975	ECC-1	luminal epithelium:	n/a	chr12:75279752-75279763
33	CEBPB	chr12:75357497-75357971	A549	lung:	n/a	chr12:75357776-75357789
34	CEBPB	chr12:75367103-75367384	IMR90	lung:	n/a	chr12:75367353-75367366
35	CEBPB	chr12:75357571-75357965	HepG2	liver:	n/a	chr12:75357776-75357789
36	CEBPB	chr12:75324740-75325033	IMR90	lung:	n/a	chr12:75324886-75324897
37	CEBPB	chr12:75358269-75358444	A549	lung:	n/a	n/a
38	CEBPB	chr12:75374198-75374766	ECC-1	luminal epithelium:	n/a	chr12:75374472-75374483 chr12:75374472-75374483
39	CEBPB	chr12:75283360-75284369	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr12:75279559-75280053	MCF-7	breast:	n/a	chr12:75279752-75279763
41	CEBPB	chr12:75292985-75293039	HepG2	liver:	n/a	n/a
42	CEBPB	chr12:75324754-75325055	HepG2	liver:	n/a	chr12:75324886-75324897
43	CEBPB	chr12:75372612-75372748	HepG2	liver:	n/a	chr12:75372619-75372630
44	CEBPB	chr12:75374264-75374780	ECC-1	luminal epithelium:	n/a	chr12:75374472-75374483 chr12:75374472-75374483
45	CEBPB	chr12:75279553-75279985	A549	lung:	n/a	chr12:75279752-75279763
46	CEBPB	chr12:75367031-75367404	A549	lung:	n/a	chr12:75367353-75367366
47	CEBPB	chr12:75353625-75353866	HepG2	liver:	n/a	n/a
48	CEBPZ	chr12:75300224-75300292	HepG2	liver:	n/a	n/a
49	CHD2	chr12:75339910-75340136	GM12878	blood:	n/a	n/a
50	CHD2	chr12:75357833-75358076	GM12878	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:75330335..75332866-chr12:75334297..75336122,2	MCF-7	breast:
2	chr12:75331999..75334925-chr12:75337453..75340054,2	MCF-7	breast:
3	chr12:75289946..75292091-chr12:75296334..75297885,2	MCF-7	breast:
4	chr12:75207717..75210514-chr12:75285038..75287810,2	MCF-7	breast:
5	chr12:75289946..75292091-chr12:75296334..75297885,2	MCF-7	breast:
6	chr12:75336977..75337697-chr16:77358943..77359755,2	MCF-7	breast:
7	chr12:75281709..75283225-chr12:75284800..75286954,2	MCF-7	breast:
8	chr12:75281709..75283225-chr12:75284800..75286954,2	MCF-7	breast:
9	chr12:75265343..75266283-chr12:75284674..75285457,4	MCF-7	breast:
10	chr12:75282404..75285246-chr12:75293318..75295641,2	MCF-7	breast:
11	chr12:75263638..75265960-chr12:75284735..75286598,2	MCF-7	breast:
12	chr12:75404209..75404838-chr20:39924998..39925789,2	MCF-7	breast:
13	chr12:75274838..75280839-chr12:75281596..75285487,6	MCF-7	breast:
14	chr12:75358040..75360198-chr12:75422290..75423830,2	MCF-7	breast:
15	chr12:75265553..75266182-chr12:75284813..75285350,2	MCF-7	breast:
16	chr12:75358040..75360198-chr12:75422290..75423830,2	MCF-7	breast:
17	chr12:75274838..75280839-chr12:75281596..75285487,6	MCF-7	breast:
18	chr12:75413695..75414606-chr15:56538291..56538861,2	MCF-7	breast:
19	chr12:75370202..75370711-chr4:101370568..101371568,2	MCF-7	breast:
20	chr12:75275843..75277770-chr12:75281940..75283697,2	MCF-7	breast:
21	chr12:75288611..75290146-chr12:75480757..75483259,2	MCF-7	breast:
22	chr12:75282404..75285246-chr12:75293318..75295641,2	MCF-7	breast:
23	chr12:75265148..75266148-chr12:75284786..75285669,4	MCF-7	breast:
24	chr12:75331999..75334925-chr12:75337453..75340054,2	MCF-7	breast:
25	chr12:75265811..75268299-chr12:75283552..75285832,3	MCF-7	breast:
26	chr12:75424336..75426758-chr12:75436388..75438151,2	K562	blood:
27	chr12:75330335..75332866-chr12:75334297..75336122,2	MCF-7	breast:
28	chr12:75265347..75266224-chr12:75307467..75308144,2	MCF-7	breast:
29	chr12:75335536..75336233-chr12:96915596..96916239,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLIPR1L1-2	chr12:75421835-75421869	NONHSAT029518
2	lnc-GLIPR1L1-2	chr12:75419754-75419984	ENSG00000257434.1
3	lnc-GLIPR1L1-2	chr12:75414749-75414864	ENSG00000257434.1
4	lnc-GLIPR1L1-2	chr12:75419767-75419984	ENSG00000257434.1
5	lnc-GLIPR1L1-3	chr12:75382082-75382123	XLOC_009805
6	lnc-GLIPR1L1-2	chr12:75418854-75418965	ENSG00000257434.1
7	lnc-GLIPR1L1-3	chr12:75379561-75380375	XLOC_009805

No data

Variant related genes	Relation type
ENSG00000257434	TF binding region

Extended variants
information (count: 2330 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2330 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547291093	chr12:75281614-75281615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570409394	chr12:75281667-75281668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560608323	chr12:75281699-75281700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559983062	chr12:75281715-75281716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377191307	chr12:75281731-75281732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368318093	chr12:75281734-75281735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368931711	chr12:75281737-75281738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372191742	chr12:75281752-75281753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573404283	chr12:75281763-75281764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374938906	chr12:75281764-75281765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565294311	chr12:75281824-75281825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533075073	chr12:75281842-75281843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113587848	chr12:75281886-75281887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549881823	chr12:75281935-75281936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183712356	chr12:75281939-75281940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528887458	chr12:75281942-75281943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34492638	chr12:75281953-75281954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529373535	chr12:75281965-75281966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370830256	chr12:75282034-75282035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565970010	chr12:75282038-75282039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542804843	chr12:75282103-75282104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563994058	chr12:75282113-75282114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189155047	chr12:75282122-75282123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192815720	chr12:75282188-75282189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537175686	chr12:75282206-75282207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562665320	chr12:75282221-75282222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557017371	chr12:75282249-75282250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369056555	chr12:75282289-75282290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371348741	chr12:75282313-75282314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553045859	chr12:75282349-75282350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533055802	chr12:75282361-75282362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573489125	chr12:75282424-75282425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142912055	chr12:75282429-75282430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202228900	chr12:75282464-75282465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200455919	chr12:75282475-75282476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201163346	chr12:75282489-75282490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559135215	chr12:75282515-75282516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149361329	chr12:75282524-75282525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201971522	chr12:75282546-75282547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185440559	chr12:75282600-75282601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563370231	chr12:75282607-75282608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374645641	chr12:75282620-75282621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528953193	chr12:75282623-75282624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542619774	chr12:75282624-75282625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57577638	chr12:75282662-75282663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559054685	chr12:75282665-75282666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528411184	chr12:75282678-75282679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531586918	chr12:75282693-75282694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144669465	chr12:75282743-75282744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148500761	chr12:75282744-75282745	Enhancers	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	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75281600-75282000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:75282000-75282600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:75282600-75283200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:75282600-75283400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:75282600-75283600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:75282600-75283600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:75282800-75283000	Enhancers	A549	lung
8	chr12:75282800-75283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:75282800-75283400	Enhancers	NH-A	brain
10	chr12:75282800-75283600	Enhancers	HUVEC	blood vessel
11	chr12:75282800-75284000	Enhancers	Fetal Intestine Large	intestine
12	chr12:75282800-75285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:75283000-75283200	Enhancers	Primary T cells from cord blood	blood
14	chr12:75283000-75283200	Enhancers	Osteobl	bone
15	chr12:75283000-75283400	Enhancers	Hela-S3	cervix
16	chr12:75283000-75283600	Enhancers	HSMM	muscle
17	chr12:75283000-75283600	Enhancers	NHEK	skin
18	chr12:75283000-75283800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:75283000-75284000	Enhancers	Colon Smooth Muscle	Colon
20	chr12:75283000-75284000	Enhancers	Fetal Intestine Small	intestine
21	chr12:75283000-75284000	Flanking Active TSS	A549	lung
22	chr12:75283000-75284000	Enhancers	HSMMtube	muscle
23	chr12:75283000-75284000	Enhancers	NHLF	lung
24	chr12:75283000-75284400	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:75283000-75285200	Enhancers	HMEC	breast
26	chr12:75283000-75285400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:75283000-75287000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:75283200-75283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:75283200-75283800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:75283200-75284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:75283200-75284000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:75283200-75284000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:75283200-75284000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:75283200-75284000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:75283200-75284000	Flanking Active TSS	Osteobl	bone
36	chr12:75283200-75284200	Weak transcription	Primary T cells from cord blood	blood
37	chr12:75283200-75284200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:75283200-75284400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:75283200-75287400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:75283400-75283800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:75283400-75284000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:75283400-75284000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:75283400-75284000	Flanking Active TSS	Hela-S3	cervix
44	chr12:75283400-75284400	Flanking Active TSS	NH-A	brain
45	chr12:75283600-75284000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:75283600-75284000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:75283600-75284000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:75283600-75284000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:75283600-75284000	Enhancers	Psoas Muscle	Psoas
50	chr12:75283600-75284000	Flanking Active TSS	HSMM	muscle

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