Variant report

Variant	nsv977145
Chromosome Location	chr12:104273790-104283207
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	ATF2	chr12:104276592-104277082	GM12878	blood:	n/a	n/a
2	ATF2	chr12:104274108-104274842	GM12878	blood:	n/a	n/a
3	ATF2	chr12:104274282-104274739	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:104274438-104274778	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:104274626-104274644	GM12878	blood:	n/a	n/a
6	CEBPB	chr12:104276671-104276799	K562	blood:	n/a	chr12:104276753-104276764
7	CEBPB	chr12:104276610-104276901	HepG2	liver:	n/a	chr12:104276753-104276764
8	CHD1	chr12:104274512-104275120	GM12878	blood:	n/a	n/a
9	CHD1	chr12:104276376-104276384	GM12878	blood:	n/a	n/a
10	CHD2	chr12:104276714-104276966	GM12878	blood:	n/a	n/a
11	CHD2	chr12:104274162-104275098	GM12878	blood:	n/a	n/a
12	CTCF	chr12:104278180-104278330	GM12875	blood:	n/a	chr12:104278195-104278211
13	CTCF	chr12:104278120-104278270	BE2_C	brain:	n/a	chr12:104278195-104278211
14	CTCF	chr12:104278110-104278300	Pancreas_OC	pancreas:	n/a	chr12:104278195-104278211
15	CTCF	chr12:104278140-104278290	AG09319	gingival:	n/a	chr12:104278195-104278211
16	CTCF	chr12:104278201-104278244	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:104278120-104278270	AG09309	skin:	n/a	chr12:104278195-104278211
18	CTCF	chr12:104278120-104278270	HVMF	connective:	n/a	chr12:104278195-104278211
19	CTCF	chr12:104277780-104277930	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr12:104278120-104278270	NB4	blood:	n/a	chr12:104278195-104278211
21	CTCF	chr12:104278160-104278310	GM12870	blood:	n/a	chr12:104278195-104278211
22	CTCF	chr12:104278100-104278250	SAEC	small airway:	n/a	chr12:104278195-104278211
23	CTCF	chr12:104278140-104278290	HMF	breast:	n/a	chr12:104278195-104278211
24	CTCF	chr12:104278080-104278230	GM12869	blood:	n/a	chr12:104278195-104278211
25	CTCF	chr12:104278240-104278390	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr12:104281580-104281730	AG10803	skin:	n/a	n/a
27	CTCF	chr12:104278060-104278210	GM12870	blood:	n/a	n/a
28	CTCF	chr12:104278140-104278290	GM12864	blood:	n/a	chr12:104278195-104278211
29	CTCF	chr12:104278160-104278310	GM12867	blood:	n/a	chr12:104278195-104278211
30	CTCF	chr12:104277840-104277990	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr12:104278040-104278190	WI-38	lung:	n/a	n/a
32	CTCF	chr12:104278640-104278790	HPF	lung:	n/a	n/a
33	CTCF	chr12:104278122-104278316	Gliobla	brain:	n/a	chr12:104278195-104278211
34	CTCF	chr12:104278160-104278310	GM12864	blood:	n/a	chr12:104278195-104278211
35	CTCF	chr12:104278160-104278310	GM12865	blood:	n/a	chr12:104278195-104278211
36	CTCF	chr12:104278100-104278250	NHEK	skin:	n/a	chr12:104278195-104278211
37	CTCF	chr12:104281500-104281650	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:104278008-104278327	HepG2	liver:	n/a	chr12:104278195-104278211
39	CTCF	chr12:104281580-104281730	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr12:104278079-104278360	SK-N-SH_RA	brain:	n/a	chr12:104278195-104278211
41	CTCF	chr12:104278040-104278190	HCM	heart:	n/a	n/a
42	CTCF	chr12:104278120-104278270	GM12801	blood:	n/a	chr12:104278195-104278211
43	CTCF	chr12:104278160-104278310	HUVEC	blood vessel:	n/a	chr12:104278195-104278211
44	CTCF	chr12:104278120-104278270	HRE	kidney:	n/a	chr12:104278195-104278211
45	CTCF	chr12:104276669-104276926	GM12878	blood:	n/a	n/a
46	CTCF	chr12:104278140-104278290	HCFaa	heart:	n/a	chr12:104278195-104278211
47	CTCF	chr12:104278080-104278230	MCF-7	breast:	n/a	chr12:104278195-104278211
48	CTCF	chr12:104277939-104278443	MCF-7	breast:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
49	CTCF	chr12:104278099-104278311	LNCaP	prostate:	n/a	chr12:104278195-104278211
50	CTCF	chr12:104276720-104276870	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104233142..104235484-chr12:104276450..104278828,3	K562	blood:
2	chr12:104277459..104278614-chr12:104502651..104503606,5	MCF-7	breast:
3	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:
4	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
5	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:
6	chr12:104281610..104283570-chr12:104286260..104289028,2	K562	blood:
7	chr12:104233142..104235198-chr12:104276474..104278828,2	K562	blood:
8	chr12:103968788..103969666-chr12:104278125..104278702,2	MCF-7	breast:
9	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:
10	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
11	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
12	chr12:104271327..104273911-chr12:104324205..104326173,2	K562	blood:
13	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
14	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:
15	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000265072	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000257327	chromatin interactions

Extended variants
information (count: 361 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148403411	chr12:104273808-104273809	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34605637	chr12:104273814-104273815	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11354565	chr12:104273818-104273819	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200984420	chr12:104273819-104273820	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200275948	chr12:104273820-104273821	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75279526	chr12:104273824-104273825	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79689217	chr12:104273825-104273826	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532402189	chr12:104273839-104273840	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547723627	chr12:104273846-104273847	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181205851	chr12:104273863-104273864	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540584738	chr12:104273913-104273914	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs2583245	chr12:104273934-104273935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs528360120	chr12:104273961-104273962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs10861131	chr12:104273978-104273979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs187119392	chr12:104273983-104273984	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs571447669	chr12:104274055-104274056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs190055457	chr12:104274082-104274083	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs150732501	chr12:104274091-104274092	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs2583244	chr12:104274192-104274193	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2583243	chr12:104274207-104274208	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536255112	chr12:104274261-104274262	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552517771	chr12:104274270-104274271	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2576962	chr12:104274305-104274306	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538976641	chr12:104274315-104274316	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560009269	chr12:104274353-104274354	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558812457	chr12:104274388-104274389	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575837325	chr12:104274426-104274427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs117898996	chr12:104274438-104274439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555047056	chr12:104274439-104274440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528447580	chr12:104274463-104274464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139097635	chr12:104274477-104274478	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs149928529	chr12:104274484-104274485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181701005	chr12:104274501-104274502	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545356009	chr12:104274532-104274533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7296997	chr12:104274545-104274546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs530735899	chr12:104274546-104274547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145032675	chr12:104274554-104274555	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551563715	chr12:104274566-104274567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7312936	chr12:104274572-104274573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529716122	chr12:104274579-104274580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2576963	chr12:104274612-104274613	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138412974	chr12:104274702-104274703	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs10562041	chr12:104274703-104274704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553247900	chr12:104274748-104274749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566167668	chr12:104274778-104274779	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2576964	chr12:104274832-104274833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2576965	chr12:104274839-104274840	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs117783367	chr12:104274840-104274841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186270316	chr12:104274864-104274865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs190735763	chr12:104274890-104274891	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
2	chr12:104271600-104274400	Enhancers	GM12878-XiMat	blood
3	chr12:104271800-104274000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:104271800-104275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:104272200-104274000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104272200-104274000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:104272200-104274000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:104272200-104274000	Weak transcription	HUVEC	blood vessel
9	chr12:104272200-104274200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:104272200-104276800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:104272200-104278200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:104272400-104273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:104272400-104274000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:104272400-104274000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:104272400-104274200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:104272400-104275800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:104272600-104273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104272600-104274000	Weak transcription	Fetal Thymus	thymus
19	chr12:104272600-104274200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:104272600-104274200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:104272600-104274200	Weak transcription	A549	lung
22	chr12:104272800-104274000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:104272800-104275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104273200-104274200	Bivalent Enhancer	HepG2	liver
25	chr12:104273200-104277400	Enhancers	HMEC	breast
26	chr12:104273400-104277200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:104273400-104277600	Enhancers	NHEK	skin
28	chr12:104273600-104274400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104273600-104275000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:104273600-104275400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:104273800-104275400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:104273800-104277200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104274000-104274200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:104274000-104274400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:104274000-104275000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:104274000-104275000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:104274000-104275000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:104274000-104275000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:104274000-104275000	Enhancers	HUVEC	blood vessel
40	chr12:104274000-104275000	Enhancers	NH-A	brain
41	chr12:104274000-104275200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:104274000-104275400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:104274000-104275400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:104274000-104275600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:104274000-104275600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:104274000-104275600	Enhancers	Fetal Thymus	thymus
47	chr12:104274000-104277400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:104274200-104274400	Weak transcription	Primary B cells from cord blood	blood
49	chr12:104274200-104274400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:104274200-104274800	Enhancers	HUES6 Cell Line	embryonic stem cell

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