Variant report

Variant	nsv541454
Chromosome Location	chr12:32371080-32401245
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	CEBPB	chr12:32388340-32388473	HepG2	liver:	n/a	chr12:32388352-32388363
2	CTCF	chr12:32383480-32383630	GM12864	blood:	n/a	n/a
3	CTCF	chr12:32383659-32383704	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:32383520-32383670	GM12875	blood:	n/a	n/a
5	CTCF	chr12:32383600-32383750	GM12869	blood:	n/a	n/a
6	CTCF	chr12:32383660-32383810	BE2_C	brain:	n/a	n/a
7	CTCF	chr12:32383620-32383770	HepG2	liver:	n/a	n/a
8	CTCF	chr12:32383660-32383810	GM12874	blood:	n/a	n/a
9	CTCF	chr12:32383560-32383710	GM12872	blood:	n/a	n/a
10	CTCF	chr12:32374524-32374575	GM20000	blood:	n/a	n/a
11	CTCF	chr12:32394280-32394430	GM12871	blood:	n/a	chr12:32394369-32394377
12	CTCF	chr12:32383640-32383790	BE2_C	brain:	n/a	n/a
13	CUX1	chr12:32383826-32383834	GM12878	blood:	n/a	n/a
14	EBF1	chr12:32383544-32383831	GM12878	blood:	n/a	chr12:32383749-32383760
15	EBF1	chr12:32383541-32383956	GM12878	blood:	n/a	chr12:32383749-32383760
16	EBF1	chr12:32383522-32383908	GM12878	blood:	n/a	chr12:32383749-32383760
17	EP300	chr12:32370754-32371282	SK-N-SH_RA	brain:	n/a	chr12:32370817-32370833
18	EP300	chr12:32370749-32371271	SK-N-SH_RA	brain:	n/a	chr12:32370817-32370833
19	EP300	chr12:32370582-32371497	SK-N-SH	brain:	n/a	chr12:32370817-32370833
20	FOS	chr12:32393775-32394103	MCF10A-Er-Src	breast:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393947-32393958 chr12:32393948-32393958
21	FOS	chr12:32370918-32371217	MCF10A-Er-Src	breast:	n/a	chr12:32371056-32371068
22	FOS	chr12:32393773-32394110	MCF10A-Er-Src	breast:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393947-32393958 chr12:32393948-32393958
23	FOS	chr12:32393773-32394079	MCF10A-Er-Src	breast:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393947-32393958 chr12:32393948-32393958
24	FOS	chr12:32370916-32371246	MCF10A-Er-Src	breast:	n/a	chr12:32371056-32371068
25	FOS	chr12:32393205-32394174	HUVEC	blood vessel:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393947-32393958 chr12:32393948-32393958
26	FOS	chr12:32370899-32371285	MCF10A-Er-Src	breast:	n/a	chr12:32371056-32371068
27	FOS	chr12:32393771-32394110	MCF10A-Er-Src	breast:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393947-32393958 chr12:32393948-32393958
28	FOS	chr12:32370902-32371251	MCF10A-Er-Src	breast:	n/a	chr12:32371056-32371068
29	FOSL2	chr12:32370865-32371189	A549	lung:	n/a	chr12:32371056-32371068
30	FOSL2	chr12:32393780-32394108	SK-N-SH	brain:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393948-32393958
31	FOSL2	chr12:32393840-32394097	MCF-7	breast:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393948-32393958
32	FOSL2	chr12:32370635-32371377	SK-N-SH	brain:	n/a	chr12:32371056-32371068
33	FOSL2	chr12:32370883-32371387	A549	lung:	n/a	chr12:32371056-32371068
34	FOXA1	chr12:32398245-32398548	T-47D	breast:	n/a	chr12:32398403-32398415 chr12:32398364-32398379 chr12:32398401-32398416
35	FOXA1	chr12:32398218-32398589	T-47D	breast:	n/a	chr12:32398403-32398415 chr12:32398364-32398379 chr12:32398401-32398416
36	FOXA2	chr12:32398260-32398502	HepG2	liver:	n/a	chr12:32398403-32398415
37	GATA3	chr12:32398153-32398577	T-47D	breast:	n/a	n/a
38	GATA3	chr12:32398187-32398606	T-47D	breast:	n/a	n/a
39	GATA3	chr12:32370737-32371423	SK-N-SH	brain:	n/a	chr12:32371061-32371070
40	GATA3	chr12:32398233-32398678	MCF-7	breast:	n/a	n/a
41	GATA3	chr12:32370604-32371517	SK-N-SH	brain:	n/a	chr12:32371061-32371070
42	JUN	chr12:32393772-32394167	HUVEC	blood vessel:	n/a	chr12:32393948-32393958 chr12:32393948-32393958 chr12:32393948-32393958
43	JUND	chr12:32370699-32371456	SK-N-SH	brain:	n/a	chr12:32371056-32371068
44	JUND	chr12:32384118-32384273	HepG2	liver:	n/a	chr12:32384144-32384155
45	JUND	chr12:32370578-32371451	SK-N-SH	brain:	n/a	chr12:32371056-32371068
46	MAFF	chr12:32386537-32386877	K562	blood:	n/a	chr12:32386694-32386712 chr12:32386693-32386707
47	MAFF	chr12:32386513-32386884	HepG2	liver:	n/a	chr12:32386694-32386712 chr12:32386693-32386707
48	MAFK	chr12:32386513-32386991	GM12878	blood:	n/a	chr12:32386690-32386710 chr12:32386693-32386707 chr12:32386692-32386708 chr12:32386695-32386710
49	MAFK	chr12:32386545-32386885	Hela-S3	cervix:	n/a	chr12:32386690-32386710 chr12:32386693-32386707 chr12:32386692-32386708 chr12:32386695-32386710
50	MAFK	chr12:32386528-32386881	K562	blood:	n/a	chr12:32386690-32386710 chr12:32386693-32386707 chr12:32386692-32386708 chr12:32386695-32386710

No.	Distal block	Cell Line	Cell type
1	chr12:32375628..32378407-chr12:32382198..32383979,2	K562	blood:
2	chr12:32378528..32381260-chr12:32382291..32384074,2	K562	blood:
3	chr12:32381480..32383173-chr12:32412418..32414240,2	MCF-7	breast:
4	chr12:32382555..32384109-chr12:32396611..32398955,2	K562	blood:
5	chr12:32382555..32384109-chr12:32396611..32398955,2	K562	blood:
6	chr12:32375628..32378407-chr12:32382198..32383979,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-9	chr12:32380344-32381088	NONHSAT027607

Variant related genes	Relation type
ENSG00000258134	TF binding region
ENSG00000258134	chromatin interactions

Extended variants
information (count: 1307 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1307 , 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	rs543723061	chr12:32371095-32371096	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149920606	chr12:32371099-32371100	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370952680	chr12:32371101-32371102	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201126705	chr12:32371102-32371103	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141795629	chr12:32371113-32371114	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73078228	chr12:32371137-32371138	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182413860	chr12:32371175-32371176	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186862602	chr12:32371284-32371285	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527254204	chr12:32371302-32371303	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7312077	chr12:32371314-32371315	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560881182	chr12:32371337-32371338	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150505743	chr12:32371338-32371339	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190677747	chr12:32371473-32371474	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376838407	chr12:32371535-32371536	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12299520	chr12:32371571-32371572	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538866689	chr12:32371583-32371584	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373652477	chr12:32371584-32371585	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552387691	chr12:32371600-32371601	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566193094	chr12:32371673-32371674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556355474	chr12:32371744-32371745	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184071477	chr12:32371822-32371823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554509189	chr12:32371830-32371831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs161973	chr12:32371865-32371866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs188624625	chr12:32371884-32371885	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537302618	chr12:32371885-32371886	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76777653	chr12:32371921-32371922	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577359139	chr12:32371951-32371952	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs374452639	chr12:32371963-32371964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs193195612	chr12:32371978-32371979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550008056	chr12:32371985-32371986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs145402276	chr12:32372000-32372001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78263900	chr12:32372036-32372037	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11051857	chr12:32372050-32372051	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572134983	chr12:32372058-32372059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78040545	chr12:32372097-32372098	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571932060	chr12:32372099-32372100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560818781	chr12:32372195-32372196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149271042	chr12:32372208-32372209	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147389775	chr12:32372219-32372220	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184324326	chr12:32372225-32372226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532186537	chr12:32372234-32372235	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16919495	chr12:32372281-32372282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139571631	chr12:32372315-32372316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144792879	chr12:32372319-32372320	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187117903	chr12:32372324-32372325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568075548	chr12:32372329-32372330	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537496251	chr12:32372342-32372343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191621916	chr12:32372352-32372353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527844970	chr12:32372388-32372389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571154813	chr12:32372435-32372436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32348600-32375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:32361600-32371600	Weak transcription	Fetal Heart	heart
4	chr12:32364200-32379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:32364800-32372000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:32364800-32388000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:32365200-32382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
12	chr12:32368000-32372600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:32368400-32382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:32368800-32372800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:32369000-32371200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:32369000-32371600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:32369000-32371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:32369000-32371600	Strong transcription	Fetal Brain Female	brain
20	chr12:32369000-32371600	Strong transcription	Fetal Intestine Large	intestine
21	chr12:32369000-32371800	Strong transcription	Dnd41	blood
22	chr12:32369000-32372600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:32369000-32372800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:32369000-32372800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:32369200-32371200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:32369200-32371200	Strong transcription	Primary T cells from cord blood	blood
27	chr12:32369200-32371200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:32369200-32371200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:32369200-32371200	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:32369200-32371200	Strong transcription	Left Ventricle	heart
31	chr12:32369200-32371200	Strong transcription	Thymus	Thymus
32	chr12:32369200-32371200	Strong transcription	HUVEC	blood vessel
33	chr12:32369200-32371400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:32369200-32371400	Strong transcription	Fetal Stomach	stomach
35	chr12:32369200-32371400	Strong transcription	Ovary	ovary
36	chr12:32369200-32371400	Strong transcription	Right Ventricle	heart
37	chr12:32369200-32371600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:32369200-32371600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:32369200-32372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32369200-32372200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr12:32369200-32372200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:32369200-32372200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:32369200-32372200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:32369200-32372400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:32369200-32372400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:32369200-32372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:32369200-32380400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:32369400-32371200	Strong transcription	Primary B cells from cord blood	blood
49	chr12:32369400-32371400	Strong transcription	Fetal Thymus	thymus
50	chr12:32369600-32371600	Enhancers	NHDF-Ad	bronchial

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