Variant report

Variant	nsv1048124
Chromosome Location	chr12:41499221-41585315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:346)
CpG islands
(count:672)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:41566591-41566714	K562	blood:	n/a	n/a
2	ATF1	chr12:41565651-41565777	K562	blood:	n/a	n/a
3	ATF1	chr12:41579594-41579660	K562	blood:	n/a	n/a
4	CEBPB	chr12:41545520-41546043	A549	lung:	n/a	n/a
5	CEBPB	chr12:41533773-41534082	HepG2	liver:	n/a	chr12:41533925-41533936
6	CEBPB	chr12:41528469-41528790	HepG2	liver:	n/a	chr12:41528621-41528632
7	CEBPB	chr12:41529576-41529865	HepG2	liver:	n/a	chr12:41529779-41529790 chr12:41529780-41529791 chr12:41529779-41529792 chr12:41529779-41529790
8	CEBPB	chr12:41500676-41501006	A549	lung:	n/a	chr12:41500844-41500855
9	CEBPB	chr12:41545629-41545990	A549	lung:	n/a	n/a
10	CEBPB	chr12:41533752-41534008	A549	lung:	n/a	chr12:41533925-41533936
11	CEBPB	chr12:41529567-41529876	A549	lung:	n/a	chr12:41529779-41529790 chr12:41529780-41529791 chr12:41529779-41529792 chr12:41529779-41529790
12	CEBPB	chr12:41528491-41528708	H1-hESC	embryonic stem cell:	n/a	chr12:41528621-41528632
13	CEBPB	chr12:41527149-41527466	HepG2	liver:	n/a	chr12:41527285-41527296
14	CEBPB	chr12:41545648-41545940	A549	lung:	n/a	n/a
15	CEBPB	chr12:41527172-41527446	IMR90	lung:	n/a	chr12:41527285-41527296
16	CEBPB	chr12:41527133-41527407	A549	lung:	n/a	chr12:41527285-41527296
17	CEBPB	chr12:41582452-41582507	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr12:41500689-41501018	IMR90	lung:	n/a	chr12:41500844-41500855
19	CEBPB	chr12:41500713-41501021	HepG2	liver:	n/a	chr12:41500844-41500855
20	CEBPB	chr12:41528481-41528820	A549	lung:	n/a	chr12:41528621-41528632
21	CHD2	chr12:41583115-41583162	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr12:41581857-41582620	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:41584320-41584470	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr12:41584280-41584430	AG09309	skin:	n/a	n/a
25	CTCF	chr12:41584320-41584470	HMEC	breast:	n/a	n/a
26	CTCF	chr12:41584300-41584450	GM06990	blood:	n/a	n/a
27	CTCF	chr12:41584340-41584490	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr12:41584400-41584550	NHEK	skin:	n/a	n/a
29	CTCF	chr12:41584320-41584470	SAEC	small airway:	n/a	n/a
30	CTCF	chr12:41582385-41582467	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr12:41584320-41584470	HEK293	kidney:	n/a	n/a
32	CTCF	chr12:41584320-41584470	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:41584400-41584550	HMEC	breast:	n/a	n/a
34	CTCF	chr12:41584308-41584549	HCT-116	colon:	n/a	n/a
35	CTCF	chr12:41584280-41584430	HCT-116	colon:	n/a	n/a
36	CTCF	chr12:41584340-41584490	GM12866	blood:	n/a	n/a
37	CTCF	chr12:41584357-41584479	GM10266	blood:	n/a	n/a
38	CTCF	chr12:41584313-41584507	NHEK	skin:	n/a	n/a
39	CTCF	chr12:41584400-41584550	BE2_C	brain:	n/a	n/a
40	CTCF	chr12:41584340-41584490	HPF	lung:	n/a	n/a
41	CTCF	chr12:41584300-41584450	HCFaa	heart:	n/a	n/a
42	CTCF	chr12:41584300-41584450	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr12:41582380-41582530	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr12:41584380-41584530	GM12868	blood:	n/a	n/a
45	CTCF	chr12:41584340-41584490	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr12:41584300-41584450	HCM	heart:	n/a	n/a
47	CTCF	chr12:41584300-41584450	AG10803	skin:	n/a	n/a
48	CTCF	chr12:41584280-41584430	GM12864	blood:	n/a	n/a
49	CTCF	chr12:41584280-41584430	AG10803	skin:	n/a	n/a
50	CTCF	chr12:41584351-41584440	MCF-7	breast:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:41583115-41583165	HCF	heart:	n/a
2	chr12:41583115-41583165	HCF	heart:	n/a
3	chr12:41582349-41582399	GM06990	blood:	n/a
4	chr12:41582017-41582067	RPTEC	kidney:	n/a
5	chr12:41582063-41582113	NHDF-neo	bronchial:	n/a
6	chr12:41582961-41583011	AG09319	gingival:	n/a
7	chr12:41583367-41583417	PFSK-1	brain:	n/a
8	chr12:41583721-41583771	PrEC	prostate:	n/a
9	chr12:41583115-41583165	ProgFib	skin:	n/a
10	chr12:41583721-41583771	HRE	kidney:	n/a
11	chr12:41581484-41581534	HepG2	liver:	n/a
12	chr12:41583115-41583165	HCPEpiC	choroid plexus:	n/a
13	chr12:41581484-41581534	MCF-7	breast:	n/a
14	chr12:41581414-41581464	SK-N-MC	brain:	n/a
15	chr12:41582349-41582399	BJ	skin:	n/a
16	chr12:41582063-41582113	HRE	kidney:	n/a
17	chr12:41583367-41583417	HCM	heart:	n/a
18	chr12:41582961-41583011	HNPCEpiC	eye:	n/a
19	chr12:41581484-41581534	AG09309	skin:	n/a
20	chr12:41581414-41581464	AG09319	gingival:	n/a
21	chr12:41581414-41581464	HL-60	blood:	n/a
22	chr12:41582362-41582412	AG04450	lung:	fetal
23	chr12:41581414-41581464	A549	lung:	n/a
24	chr12:41582067-41582117	LNCaP	prostate:	n/a
25	chr12:41582349-41582399	A549	lung:	n/a
26	chr12:41582349-41582399	H1-hESC	embryonic stem cell:	embryo
27	chr12:41581484-41581534	BE2_C	brain:	n/a
28	chr12:41582961-41583011	AG10803	skin:	n/a
29	chr12:41582063-41582113	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:41582362-41582412	NB4	blood:	n/a
31	chr12:41583115-41583165	BE2_C	brain:	n/a
32	chr12:41582961-41583011	HAEpiC	amniotic membrane:	n/a
33	chr12:41581414-41581464	ovcar-3	ovarian:	n/a
34	chr12:41582961-41583011	HIPEpiC	eye:	n/a
35	chr12:41582067-41582117	HCF	heart:	n/a
36	chr12:41582961-41583011	HEK293	kidney:	embryo
37	chr12:41581484-41581534	SK-N-SH	brain:	n/a
38	chr12:41581484-41581534	SKMC	muscle:	n/a
39	chr12:41583367-41583417	ECC-1	luminal epithelium:	n/a
40	chr12:41581414-41581464	HCM	heart:	n/a
41	chr12:41582349-41582399	AG04449	skin:	fetal
42	chr12:41582067-41582117	A549	lung:	n/a
43	chr12:41582063-41582113	AG04449	skin:	fetal
44	chr12:41582017-41582067	HRE	kidney:	n/a
45	chr12:41582017-41582067	HCF	heart:	n/a
46	chr12:41582349-41582399	HEK293	kidney:	embryo
47	chr12:41582961-41583011	ovcar-3	ovarian:	n/a
48	chr12:41581484-41581534	GM12891	blood:	n/a
49	chr12:41583115-41583165	AG10803	skin:	n/a
50	chr12:41583115-41583165	HCM	heart:	n/a

No data

Variant related genes	Relation type
PDZRN4	TF binding region
PDZRN4	CpG island

Extended variants
information (count: 1302 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1302 , 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	rs150039123	chr12:41499250-41499251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535842264	chr12:41499274-41499275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573235040	chr12:41499290-41499291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7957386	chr12:41499299-41499300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564985066	chr12:41499311-41499312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374905016	chr12:41499322-41499323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146627734	chr12:41499337-41499338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs776895	chr12:41499344-41499345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563465744	chr12:41499368-41499369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189700423	chr12:41499383-41499384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34920316	chr12:41499412-41499413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs776894	chr12:41499458-41499459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181346376	chr12:41499464-41499465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116724703	chr12:41499498-41499499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528440673	chr12:41499515-41499516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546570526	chr12:41499548-41499549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571162660	chr12:41499576-41499577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185027183	chr12:41499615-41499616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550424632	chr12:41499749-41499750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs690709	chr12:41499792-41499793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140169920	chr12:41499807-41499808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143934602	chr12:41499815-41499816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146419477	chr12:41499826-41499827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149045537	chr12:41499828-41499829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35579319	chr12:41499868-41499869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143054815	chr12:41499873-41499874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577185968	chr12:41499899-41499900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189143087	chr12:41499900-41499901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375443321	chr12:41499905-41499906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs473774	chr12:41499912-41499913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574135399	chr12:41499917-41499918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181075894	chr12:41500007-41500008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs447889	chr12:41500010-41500011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561063200	chr12:41500048-41500049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151171960	chr12:41500055-41500056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546929864	chr12:41500085-41500086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12581237	chr12:41500101-41500102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs36072636	chr12:41500141-41500142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186295612	chr12:41500189-41500190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546440734	chr12:41500207-41500208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568849422	chr12:41500228-41500229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141111996	chr12:41500239-41500240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191072697	chr12:41500263-41500264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564544648	chr12:41500340-41500341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78951748	chr12:41500362-41500363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12580345	chr12:41500371-41500372	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140262034	chr12:41500384-41500385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559011798	chr12:41500390-41500391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150356462	chr12:41500392-41500393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537838664	chr12:41500448-41500449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41498000-41501400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41498000-41502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:41498400-41502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:41498800-41500200	Weak transcription	Pancreas	Pancrea
5	chr12:41500200-41500400	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:41500400-41500600	Enhancers	Pancreas	Pancrea
7	chr12:41501400-41502400	Enhancers	Fetal Stomach	stomach
8	chr12:41501400-41503400	Enhancers	Fetal Brain Male	brain
9	chr12:41501400-41503400	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:41501400-41503600	Enhancers	Colon Smooth Muscle	Colon
11	chr12:41501600-41502400	Enhancers	Stomach Smooth Muscle	stomach
12	chr12:41501800-41502400	Enhancers	Aorta	Aorta
13	chr12:41501800-41502400	Enhancers	Ovary	ovary
14	chr12:41501800-41502600	Enhancers	Fetal Lung	lung
15	chr12:41502000-41502200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:41502000-41502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:41502200-41502600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:41502200-41503600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:41503200-41503400	Enhancers	Aorta	Aorta
20	chr12:41503400-41512600	Weak transcription	Fetal Brain Male	brain
21	chr12:41506600-41508400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:41512600-41514200	Enhancers	Fetal Brain Male	brain
23	chr12:41512600-41514600	Enhancers	Fetal Brain Female	brain
24	chr12:41513000-41514400	Enhancers	Brain Germinal Matrix	brain
25	chr12:41513600-41514400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:41514000-41514600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:41514200-41516800	Weak transcription	Fetal Brain Male	brain
28	chr12:41514600-41516800	Weak transcription	Fetal Brain Female	brain
29	chr12:41515200-41515800	Enhancers	Colon Smooth Muscle	Colon
30	chr12:41515400-41515800	Enhancers	Rectal Smooth Muscle	rectum
31	chr12:41515800-41516800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:41515800-41516800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:41516800-41517000	Enhancers	Colon Smooth Muscle	Colon
34	chr12:41516800-41517000	Enhancers	Fetal Brain Male	brain
35	chr12:41516800-41517000	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:41516800-41517200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:41516800-41517200	Enhancers	Fetal Brain Female	brain
38	chr12:41517000-41517400	Weak transcription	Fetal Brain Male	brain
39	chr12:41517000-41517600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:41517400-41517800	Enhancers	Fetal Brain Male	brain
41	chr12:41517600-41517800	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:41521000-41521200	Bivalent/Poised TSS	Left Ventricle	heart
43	chr12:41533400-41534400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:41533400-41534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:41533600-41534200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:41533600-41534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:41533600-41534800	Enhancers	Colon Smooth Muscle	Colon
48	chr12:41533800-41534200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:41533800-41534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:41533800-41534400	Enhancers	HUVEC	blood vessel

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