Variant report

Variant	nsv514646
Chromosome Location	chr12:11174231-11175221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr12:11174503-11174580	K562	blood:	n/a	n/a
2	MAFF	chr12:11174711-11175033	HepG2	liver:	n/a	chr12:11174854-11174872
3	MAFK	chr12:11174724-11175045	HepG2	liver:	n/a	chr12:11174856-11174871
4	MAFK	chr12:11174726-11174947	HepG2	liver:	n/a	chr12:11174856-11174871
5	POLR2A	chr12:11174298-11174516	K562	blood:	n/a	n/a
6	STAT3	chr12:11174783-11174956	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11174898-11174948	NT2-D1	testis:	n/a
2	chr12:11174898-11174948	HCPEpiC	choroid plexus:	n/a
3	chr12:11174898-11174948	NHBE	bronchial:	n/a
4	chr12:11174898-11174948	HCT-116	colon:	n/a
5	chr12:11174898-11174948	HCF	heart:	n/a
6	chr12:11174898-11174948	U87	brain:	n/a
7	chr12:11174898-11174948	IMR90	lung:	fetal
8	chr12:11174898-11174948	GM12891	blood:	n/a
9	chr12:11174898-11174948	Hela-S3	cervix:	n/a
10	chr12:11174898-11174948	HRCEpiC	kidney:	n/a
11	chr12:11174898-11174948	ovcar-3	ovarian:	n/a
12	chr12:11174898-11174948	HNPCEpiC	eye:	n/a
13	chr12:11174898-11174948	HUVEC	blood vessel:	n/a
14	chr12:11174898-11174948	NB4	blood:	n/a
15	chr12:11174898-11174948	GM12892	blood:	n/a
16	chr12:11174898-11174948	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:11174898-11174948	HL-60	blood:	n/a
18	chr12:11174898-11174948	BJ	skin:	n/a
19	chr12:11174898-11174948	PFSK-1	brain:	n/a
20	chr12:11174898-11174948	K562	blood:	n/a
21	chr12:11174898-11174948	H1-hESC	embryonic stem cell:	embryo
22	chr12:11174898-11174948	AG10803	skin:	n/a
23	chr12:11174898-11174948	HCM	heart:	n/a
24	chr12:11174898-11174948	SKMC	muscle:	n/a
25	chr12:11174898-11174948	PrEC	prostate:	n/a
26	chr12:11174898-11174948	HepG2	liver:	n/a
27	chr12:11174898-11174948	SK-N-SH	brain:	n/a
28	chr12:11174898-11174948	AoSMC	blood vessel:	n/a
29	chr12:11174898-11174948	MCF10A-Er-Src	breast:	n/a
30	chr12:11174898-11174948	SK-N-MC	brain:	n/a
31	chr12:11174898-11174948	MCF-7	breast:	n/a
32	chr12:11174898-11174948	HMEC	breast:	n/a
33	chr12:11174898-11174948	ECC-1	luminal epithelium:	n/a
34	chr12:11174898-11174948	HIPEpiC	eye:	n/a
35	chr12:11174898-11174948	AG04449	skin:	fetal
36	chr12:11174898-11174948	SAEC	small airway:	n/a
37	chr12:11174898-11174948	CMK	blood:	n/a
38	chr12:11174898-11174948	BE2_C	brain:	n/a
39	chr12:11174898-11174948	PANC-1	pancreas:	n/a
40	chr12:11174898-11174948	T-47D	breast:	n/a
41	chr12:11174898-11174948	SK-N-SH_RA	brain:	n/a
42	chr12:11174898-11174948	Jurkat	blood:	n/a
43	chr12:11174898-11174948	HRE	kidney:	n/a
44	chr12:11174898-11174948	AG09319	gingival:	n/a
45	chr12:11174898-11174948	Caco-2	colon:	n/a
46	chr12:11174898-11174948	AG04450	lung:	fetal
47	chr12:11174898-11174948	AG09309	skin:	n/a
48	chr12:11174898-11174948	GM19239	blood:	n/a
49	chr12:11174898-11174948	HEK293	kidney:	embryo
50	chr12:11174898-11174948	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
TAS2R19	TF binding region
TAS2R19	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200425184	chr12:11174244-11174245	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77074409	chr12:11174264-11174265	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368242992	chr12:11174274-11174275	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139129245	chr12:11174275-11174276	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10772420	chr12:11174276-11174277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs74386164	chr12:11174282-11174283	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77837442	chr12:11174286-11174287	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72475480	chr12:11174302-11174303	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554158403	chr12:11174307-11174308	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567559465	chr12:11174319-11174320	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144242846	chr12:11174321-11174322	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72475481	chr12:11174327-11174328	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560133729	chr12:11174356-11174357	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527944519	chr12:11174366-11174367	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74772077	chr12:11174372-11174373	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576069733	chr12:11174373-11174374	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372566412	chr12:11174376-11174377	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76970958	chr12:11174380-11174381	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199776344	chr12:11174382-11174383	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74992161	chr12:11174390-11174391	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76455106	chr12:11174397-11174398	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200784218	chr12:11174402-11174403	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200427244	chr12:11174408-11174409	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112900131	chr12:11174416-11174417	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138364937	chr12:11174437-11174438	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115229396	chr12:11174452-11174453	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374667272	chr12:11174465-11174466	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199592952	chr12:11174466-11174467	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200081075	chr12:11174476-11174477	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200715232	chr12:11174492-11174493	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115299813	chr12:11174498-11174499	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375238408	chr12:11174501-11174502	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200095330	chr12:11174510-11174511	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201112051	chr12:11174515-11174516	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138697707	chr12:11174524-11174525	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370728247	chr12:11174533-11174534	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540613976	chr12:11174534-11174535	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560445580	chr12:11174536-11174537	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529522791	chr12:11174542-11174543	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs202189737	chr12:11174543-11174544	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149328292	chr12:11174545-11174546	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144643889	chr12:11174557-11174558	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563064379	chr12:11174559-11174560	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs199639701	chr12:11174576-11174577	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372163504	chr12:11174582-11174583	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201694653	chr12:11174590-11174591	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373198792	chr12:11174594-11174595	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200760616	chr12:11174595-11174596	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375526057	chr12:11174625-11174626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530176245	chr12:11174635-11174636	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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 lymphoblastic leukemia	19100363	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
6	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
9	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
11	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
12	chr12:11148400-11178200	Weak transcription	Dnd41	blood
13	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:11154200-11178200	Weak transcription	A549	lung
15	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:11159400-11182000	Weak transcription	NHEK	skin
17	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
20	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
22	chr12:11163600-11178800	Weak transcription	Ovary	ovary
23	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
25	chr12:11165000-11180800	Weak transcription	HSMM	muscle
26	chr12:11165400-11180200	Weak transcription	Esophagus	oesophagus
27	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:11167000-11178200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:11167600-11178000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:11167600-11180000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:11167800-11178600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:11168000-11177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:11168800-11201000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:11168800-11205800	Weak transcription	Osteobl	bone
38	chr12:11169000-11177000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:11169000-11178200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:11169000-11180200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:11169200-11178000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:11169200-11178200	Weak transcription	Liver	Liver
43	chr12:11169400-11176200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:11169400-11178000	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:11169400-11180200	Weak transcription	Gastric	stomach
46	chr12:11169400-11180800	Weak transcription	Right Ventricle	heart
47	chr12:11169400-11182000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:11169400-11182400	Weak transcription	Spleen	Spleen
49	chr12:11169400-11201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel

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