Variant report

Variant	nsv977157
Chromosome Location	chr12:48839854-48852791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 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	ATF1	chr12:48845258-48845500	K562	blood:	n/a	n/a
2	BCL11A	chr12:48840253-48840465	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr12:48848379-48848804	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:48840031-48840422	Hela-S3	cervix:	n/a	chr12:48840193-48840202 chr12:48840193-48840204
5	CTCF	chr12:48848580-48848730	GM12874	blood:	n/a	n/a
6	CTCF	chr12:48848580-48848730	A549	lung:	n/a	n/a
7	CTCF	chr12:48848560-48848710	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr12:48848494-48848808	K562	blood:	n/a	n/a
9	CTCF	chr12:48848540-48848690	HRE	kidney:	n/a	n/a
10	CTCF	chr12:48848580-48848730	AG04450	lung:	n/a	n/a
11	CTCF	chr12:48848580-48848730	NHEK	skin:	n/a	n/a
12	CTCF	chr12:48848580-48848730	GM12873	blood:	n/a	n/a
13	CTCF	chr12:48848406-48848870	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:48848600-48848750	HCT-116	colon:	n/a	n/a
15	CTCF	chr12:48848540-48848690	AG04450	lung:	n/a	n/a
16	CTCF	chr12:48848660-48848810	GM12871	blood:	n/a	n/a
17	CTCF	chr12:48848600-48848750	SAEC	small airway:	n/a	n/a
18	CTCF	chr12:48848640-48848790	HVMF	connective:	n/a	n/a
19	CTCF	chr12:48848505-48848711	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:48848609-48848720	GM10266	blood:	n/a	n/a
21	CTCF	chr12:48848600-48848750	BJ	skin:	n/a	n/a
22	CTCF	chr12:48848660-48848810	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr12:48848660-48848810	NB4	blood:	n/a	n/a
24	CTCF	chr12:48842640-48842790	NB4	blood:	n/a	n/a
25	CTCF	chr12:48848510-48848836	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr12:48848548-48848791	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:48848640-48848790	RPTEC	kidney:	n/a	n/a
28	CTCF	chr12:48848560-48848710	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr12:48848540-48848690	GM12864	blood:	n/a	n/a
30	CTCF	chr12:48848536-48848772	K562	blood:	n/a	n/a
31	CTCF	chr12:48848512-48848840	HepG2	liver:	n/a	n/a
32	CTCF	chr12:48848320-48848470	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr12:48848500-48848650	HCT-116	colon:	n/a	n/a
34	CTCF	chr12:48848580-48848730	HPF	lung:	n/a	n/a
35	CTCF	chr12:48848740-48848890	HCT-116	colon:	n/a	n/a
36	CTCF	chr12:48848600-48848750	GM12878	blood:	n/a	n/a
37	CTCF	chr12:48848530-48848787	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:48848537-48848777	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr12:48848566-48848760	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:48848600-48848750	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr12:48848600-48848750	GM12869	blood:	n/a	n/a
42	CTCF	chr12:48848453-48848808	HCT-116	colon:	n/a	n/a
43	CTCF	chr12:48848543-48848765	LNCaP	prostate:	n/a	n/a
44	CTCF	chr12:48848560-48848710	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr12:48848580-48848730	HMEC	breast:	n/a	n/a
46	CTCF	chr12:48848580-48848730	HVMF	connective:	n/a	n/a
47	CTCF	chr12:48848560-48848710	GM12872	blood:	n/a	n/a
48	CTCF	chr12:48848580-48848730	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr12:48848500-48848650	HCM	heart:	n/a	n/a
50	CTCF	chr12:48848640-48848790	HMEC	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48852008..48853730-chr12:48876286..48878217,2	MCF-7	breast:
2	chr12:48848169..48849119-chr12:49012033..49012563,2	MCF-7	breast:
3	chr12:48559108..48559625-chr12:48848164..48848665,2	MCF-7	breast:
4	chr12:48583302..48583874-chr12:48848390..48849077,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANP32D-1	chr12:48849393-48849557	XLOC_009736
2	lnc-ANP32D-1	chr12:48849081-48849557	NONHSAT028001

No data

Variant related genes	Relation type
OR8T1P	TF binding region
ENSG00000177627	chromatin interactions
SMC3	miRNA target sites

Extended variants
information (count: 292 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139316059	chr12:48839860-48839861	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189571360	chr12:48839947-48839948	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11168575	chr12:48839948-48839949	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532285497	chr12:48840005-48840006	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182092156	chr12:48840009-48840010	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548491921	chr12:48840037-48840038	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116778950	chr12:48840051-48840052	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140042043	chr12:48840108-48840109	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113985859	chr12:48840158-48840159	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185110283	chr12:48840176-48840177	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577263690	chr12:48840253-48840254	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116561649	chr12:48840258-48840259	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551962345	chr12:48840285-48840286	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190702482	chr12:48840303-48840304	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61942830	chr12:48840305-48840306	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114426728	chr12:48840347-48840348	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143577064	chr12:48840402-48840403	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11168576	chr12:48840418-48840419	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181796516	chr12:48840430-48840431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559834867	chr12:48840435-48840436	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs77205040	chr12:48840453-48840454	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs532101135	chr12:48840483-48840484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2468942	chr12:48840491-48840492	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537848565	chr12:48840507-48840508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562114566	chr12:48840519-48840520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189553088	chr12:48840532-48840533	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548429857	chr12:48840550-48840551	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs556181260	chr12:48840566-48840567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568415669	chr12:48840663-48840664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528023974	chr12:48840675-48840676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547665828	chr12:48840701-48840702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571057489	chr12:48840787-48840788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12306781	chr12:48840812-48840813	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556641758	chr12:48840830-48840831	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555584674	chr12:48840865-48840866	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180806206	chr12:48840912-48840913	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535859278	chr12:48840937-48840938	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569732019	chr12:48840952-48840953	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554858099	chr12:48840959-48840960	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574784373	chr12:48840972-48840973	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138876237	chr12:48840973-48840974	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374735126	chr12:48840990-48840991	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367888667	chr12:48840991-48840992	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375716705	chr12:48840993-48840994	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572205925	chr12:48840995-48840996	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377059520	chr12:48840997-48840998	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71281685	chr12:48840999-48841000	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374100486	chr12:48841000-48841001	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60937613	chr12:48841002-48841003	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2468941	chr12:48841003-48841004	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48833800-48840400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48834200-48840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48834200-48840400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48839200-48840200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:48839200-48840400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:48839200-48840400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:48839400-48840000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48839400-48840200	Enhancers	Primary T cells from cord blood	blood
9	chr12:48839400-48840200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:48839400-48840400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:48839400-48840400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:48839400-48840400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:48839600-48840000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:48839600-48840000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:48839600-48840200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:48839600-48840200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:48839600-48840400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:48839600-48840400	Enhancers	Hela-S3	cervix
19	chr12:48839600-48841000	Enhancers	Fetal Heart	heart
20	chr12:48839600-48841200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48839800-48840200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:48839800-48840200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:48839800-48840400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:48839800-48840400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:48839800-48840400	Enhancers	Psoas Muscle	Psoas
26	chr12:48839800-48840400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:48839800-48840400	Enhancers	GM12878-XiMat	blood
28	chr12:48839800-48840400	Bivalent Enhancer	HUVEC	blood vessel
29	chr12:48839800-48840600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:48839800-48840600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:48840000-48840200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:48840000-48840400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:48840200-48840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:48840200-48841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:48840200-48841600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:48840200-48841600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:48840400-48840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:48840400-48841400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:48840400-48841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:48840400-48841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:48840400-48841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:48840400-48841600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:48840600-48841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:48840800-48841400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:48841400-48842000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:48841400-48843200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:48841400-48843400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:48841400-48843400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:48841600-48841800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:48841600-48842000	Enhancers	HUES64 Cell Line	embryonic stem cell

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