Variant report

Variant	nsv975452
Chromosome Location	chr12:12306727-12310665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:12306938-12307203	IMR90	lung:	n/a	chr12:12307040-12307051
2	CEBPB	chr12:12306937-12307180	HepG2	liver:	n/a	chr12:12307040-12307051
3	CEBPB	chr12:12306967-12307204	A549	lung:	n/a	chr12:12307040-12307051
4	CTCF	chr12:12306580-12306810	GM06990	blood:	n/a	n/a
5	CTCF	chr12:12306600-12306750	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr12:12306670-12306739	GM10266	blood:	n/a	n/a
7	CTCF	chr12:12306940-12307090	BE2_C	brain:	n/a	n/a
8	CTCF	chr12:12306671-12306736	GM10248	blood:	n/a	n/a
9	CTCF	chr12:12306620-12306770	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr12:12308027-12308124	GM10266	blood:	n/a	n/a
11	CTCF	chr12:12306640-12306790	GM12874	blood:	n/a	n/a
12	CTCF	chr12:12306739-12306742	GM10248	blood:	n/a	n/a
13	CTCF	chr12:12306626-12306757	GM12878	blood:	n/a	n/a
14	CTCF	chr12:12306651-12306779	GM19240	blood:	n/a	n/a
15	CTCF	chr12:12306648-12306741	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:12306688-12306748	GM13977	blood:	n/a	n/a
17	CTCF	chr12:12306620-12306770	GM12864	blood:	n/a	n/a
18	CTCF	chr12:12306620-12306770	GM12872	blood:	n/a	n/a
19	CTCF	chr12:12306600-12306750	GM12873	blood:	n/a	n/a
20	FOS	chr12:12310476-12310677	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:12310440-12310626	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFF	chr12:12308467-12308498	HepG2	liver:	n/a	n/a
23	MAFK	chr12:12308328-12308602	HepG2	liver:	n/a	n/a
24	MAFK	chr12:12308362-12308612	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:12307918-12308044	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:12310155-12310303	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:12306706-12306771	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:12309794-12309951	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:12307524-12307535	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:12310148-12310339	H1-hESC	embryonic stem cell:	n/a	n/a
31	SPI1	chr12:12306612-12307086	GM12891	blood:	n/a	n/a
32	SPI1	chr12:12306594-12307059	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12310500..12312178-chr12:12419652..12422450,2	K562	blood:
2	chr12:12305442..12307716-chr12:12320693..12322842,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LOH12CR1-6	chr12:12308196-12308706	NONHSAT026964

No data

Variant related genes	Relation type
ENSG00000242405	TF binding region
ENSG00000070018	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369532613	chr12:12306734-12306735	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs527302673	chr12:12306738-12306739	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148115374	chr12:12306761-12306762	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141297081	chr12:12306769-12306770	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184171586	chr12:12306908-12306909	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs116846292	chr12:12306946-12306947	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549997963	chr12:12306957-12306958	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568304710	chr12:12306973-12306974	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs34567442	chr12:12306974-12306975	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112678451	chr12:12307040-12307041	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547900602	chr12:12307086-12307087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142779260	chr12:12307160-12307161	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539827190	chr12:12307176-12307177	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558120078	chr12:12307181-12307182	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368183749	chr12:12307200-12307201	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs11416889	chr12:12307201-12307202	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs66800388	chr12:12307202-12307203	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377152142	chr12:12307205-12307206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537386887	chr12:12307207-12307208	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555524920	chr12:12307209-12307210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374589423	chr12:12307212-12307213	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536435335	chr12:12307244-12307245	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376476601	chr12:12307340-12307341	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188918531	chr12:12307428-12307429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546610179	chr12:12307463-12307464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566748661	chr12:12307484-12307485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541530314	chr12:12307489-12307490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147410182	chr12:12307533-12307534	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs571907552	chr12:12307557-12307558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7301012	chr12:12307644-12307645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs564117391	chr12:12307650-12307651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34806020	chr12:12307675-12307676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558599777	chr12:12307693-12307694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114601164	chr12:12307704-12307705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373415174	chr12:12307725-12307726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561845725	chr12:12307726-12307727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529109650	chr12:12307739-12307740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115254912	chr12:12307821-12307822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181666531	chr12:12307822-12307823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2041891	chr12:12307828-12307829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551350425	chr12:12307870-12307871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374310635	chr12:12307917-12307918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138192634	chr12:12307939-12307940	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11054711	chr12:12307989-12307990	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184642551	chr12:12308007-12308008	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs386760453	chr12:12308011-12308012	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs567485784	chr12:12308012-12308013	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10466846	chr12:12308013-12308014	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553541438	chr12:12308023-12308024	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139486122	chr12:12308061-12308062	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12263800-12314600	Weak transcription	Esophagus	oesophagus
3	chr12:12264400-12311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
6	chr12:12272400-12325200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:12274600-12313600	Weak transcription	Colonic Mucosa	Colon
8	chr12:12277400-12306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:12277600-12311600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:12278200-12310600	Weak transcription	Hela-S3	cervix
11	chr12:12279800-12311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:12279800-12311000	Weak transcription	HMEC	breast
13	chr12:12279800-12311600	Weak transcription	Dnd41	blood
14	chr12:12279800-12313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
17	chr12:12283400-12309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:12285000-12309800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:12285000-12311400	Weak transcription	Pancreas	Pancrea
20	chr12:12285600-12315000	Weak transcription	Fetal Heart	heart
21	chr12:12287400-12318200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:12288200-12310600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:12288200-12342800	Weak transcription	K562	blood
24	chr12:12288600-12311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:12289400-12318200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:12297200-12318000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:12297600-12321400	Weak transcription	Gastric	stomach
28	chr12:12298000-12308400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:12298800-12312200	Strong transcription	Fetal Intestine Large	intestine
30	chr12:12299200-12310200	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:12300600-12315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:12300800-12313200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:12301800-12308200	Weak transcription	Placenta	Placenta
34	chr12:12302000-12310200	Weak transcription	NHDF-Ad	bronchial
35	chr12:12302000-12311400	Weak transcription	Aorta	Aorta
36	chr12:12302000-12311800	Weak transcription	Lung	lung
37	chr12:12302000-12318000	Weak transcription	Stomach Mucosa	stomach
38	chr12:12302200-12325000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:12302400-12313000	Weak transcription	NHLF	lung
41	chr12:12302600-12306800	Weak transcription	Fetal Intestine Small	intestine
42	chr12:12302600-12311400	Weak transcription	Brain Angular Gyrus	brain
43	chr12:12302800-12311400	Weak transcription	Fetal Brain Female	brain
44	chr12:12302800-12317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:12303600-12318200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:12303800-12309000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:12303800-12311200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:12303800-12316200	Weak transcription	GM12878-XiMat	blood
49	chr12:12303800-12316600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:12303800-12335600	Weak transcription	Right Ventricle	heart

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