Variant report

Variant	nsv826525
Chromosome Location	chr12:119247463-119290732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:408)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:119288183-119288243	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:119278262-119278518	K562	blood:	n/a	n/a
3	CEBPB	chr12:119260239-119260313	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:119290228-119290388	K562	blood:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
5	CEBPB	chr12:119290181-119290418	A549	lung:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
6	CEBPB	chr12:119252161-119252474	HepG2	liver:	n/a	chr12:119252317-119252328
7	CEBPB	chr12:119278130-119278610	MCF-7	breast:	n/a	n/a
8	CEBPB	chr12:119290150-119290605	HepG2	liver:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
9	CEBPB	chr12:119252207-119252447	A549	lung:	n/a	chr12:119252317-119252328
10	CEBPB	chr12:119278222-119278540	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPD	chr12:119251765-119252208	K562	blood:	n/a	n/a
12	CEBPD	chr12:119251820-119252065	K562	blood:	n/a	n/a
13	CTCF	chr12:119278280-119278430	GM12870	blood:	n/a	n/a
14	CTCF	chr12:119288160-119288310	GM12865	blood:	n/a	n/a
15	CTCF	chr12:119288140-119288290	GM12870	blood:	n/a	n/a
16	CTCF	chr12:119278320-119278470	Caco-2	colon:	n/a	n/a
17	CTCF	chr12:119288120-119288270	HEK293	kidney:	n/a	n/a
18	CTCF	chr12:119288075-119288401	A549	lung:	n/a	n/a
19	CTCF	chr12:119288140-119288290	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr12:119288140-119288290	HPF	lung:	n/a	n/a
21	CTCF	chr12:119288180-119288330	HepG2	liver:	n/a	n/a
22	CTCF	chr12:119288102-119288403	HepG2	liver:	n/a	n/a
23	CTCF	chr12:119288160-119288310	K562	blood:	n/a	n/a
24	CTCF	chr12:119288120-119288270	AG04450	lung:	n/a	n/a
25	CTCF	chr12:119278297-119278523	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr12:119288220-119288370	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr12:119288128-119288313	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr12:119288120-119288270	HepG2	liver:	n/a	n/a
29	CTCF	chr12:119288113-119288391	GM19240	blood:	n/a	n/a
30	CTCF	chr12:119278340-119278490	SAEC	small airway:	n/a	n/a
31	CTCF	chr12:119288200-119288350	RPTEC	kidney:	n/a	n/a
32	CTCF	chr12:119288120-119288270	HCFaa	heart:	n/a	n/a
33	CTCF	chr12:119278266-119278547	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:119288120-119288270	HVMF	connective:	n/a	n/a
35	CTCF	chr12:119259468-119259577	K562	blood:	n/a	n/a
36	CTCF	chr12:119278340-119278490	HEK293	kidney:	n/a	n/a
37	CTCF	chr12:119288160-119288310	GM12867	blood:	n/a	n/a
38	CTCF	chr12:119278300-119278450	GM12873	blood:	n/a	n/a
39	CTCF	chr12:119288123-119288373	GM10266	blood:	n/a	n/a
40	CTCF	chr12:119288140-119288290	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:119288118-119288387	GM19238	blood:	n/a	n/a
42	CTCF	chr12:119288160-119288310	GM12873	blood:	n/a	n/a
43	CTCF	chr12:119278260-119278410	NHEK	skin:	n/a	n/a
44	CTCF	chr12:119278300-119278450	GM12878	blood:	n/a	n/a
45	CTCF	chr12:119288120-119288270	HRE	kidney:	n/a	n/a
46	CTCF	chr12:119288137-119288345	GM20000	blood:	n/a	n/a
47	CTCF	chr12:119278414-119278452	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr12:119288140-119288290	GM12875	blood:	n/a	n/a
49	CTCF	chr12:119278346-119278469	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr12:119278050-119278680	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119117331..119119543-chr12:119272928..119275663,2	K562	blood:
2	chr12:119277859..119279542-chr12:119284779..119287652,2	K562	blood:
3	chr12:119277859..119279542-chr12:119284779..119287652,2	K562	blood:
4	chr12:119282491..119284447-chr12:119286794..119288862,2	K562	blood:
5	chr12:119282491..119284447-chr12:119286794..119288862,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-5	chr12:119270767-119270848	ENSG00000255814
2	lnc-TAOK3-5	chr12:119256609-119256826	ENSG00000255814
3	lnc-TAOK3-5	chr12:119271192-119271341	ENSG00000255814
4	lnc-TAOK3-6	chr12:119287159-119287281	ENSG00000256149

No data

Variant related genes	Relation type
RNA5SP374	TF binding region
ENSG00000255814	TF binding region

Extended variants
information (count: 913 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185388065	chr12:119250818-119250819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559860677	chr12:119250829-119250830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376044119	chr12:119250833-119250834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537471419	chr12:119250840-119250841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139340537	chr12:119250863-119250864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559058629	chr12:119250883-119250884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114878721	chr12:119250901-119250902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368628124	chr12:119250907-119250908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12302664	chr12:119250937-119250938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12316636	chr12:119250965-119250966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573924123	chr12:119250969-119250970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367706550	chr12:119250998-119250999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555611189	chr12:119251008-119251009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569531638	chr12:119251016-119251017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575582999	chr12:119251026-119251027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544246648	chr12:119251126-119251127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557753203	chr12:119251159-119251160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189374664	chr12:119251166-119251167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144409427	chr12:119251180-119251181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146563583	chr12:119251183-119251184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560303670	chr12:119251225-119251226	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182024231	chr12:119251257-119251258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542685034	chr12:119251274-119251275	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562478147	chr12:119251298-119251299	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371579248	chr12:119251299-119251300	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186055092	chr12:119251309-119251310	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs571264151	chr12:119251311-119251312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548333447	chr12:119251315-119251316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561329738	chr12:119251342-119251343	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs367998432	chr12:119251374-119251375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567434429	chr12:119251410-119251411	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568215188	chr12:119251423-119251424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556341660	chr12:119251444-119251445	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569225264	chr12:119251491-119251492	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs141322330	chr12:119251510-119251511	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533999816	chr12:119251523-119251524	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12581908	chr12:119251542-119251543	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577657378	chr12:119251623-119251624	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540520101	chr12:119251679-119251680	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372007151	chr12:119251702-119251703	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34355480	chr12:119251708-119251709	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11837814	chr12:119251709-119251710	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574161542	chr12:119251771-119251772	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570790733	chr12:119251782-119251783	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192070602	chr12:119251783-119251784	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539797927	chr12:119251855-119251856	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76123992	chr12:119251876-119251877	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs80099153	chr12:119251922-119251923	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11837861	chr12:119251934-119251935	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536352676	chr12:119251954-119251955	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119250800-119251200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:119250800-119252200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:119250800-119252800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119251000-119251400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:119251000-119251600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:119251000-119251800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:119251200-119251600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:119251200-119252000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:119251400-119251600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:119251400-119252000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:119251400-119252000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:119251400-119252000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:119251400-119252200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:119251400-119252800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:119251600-119251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:119251600-119252000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:119251600-119252000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:119251600-119252200	Enhancers	K562	blood
19	chr12:119251800-119252000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:119252000-119252600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:119252000-119252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:119252000-119253200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:119252200-119255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:119254600-119255000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:119255000-119255200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:119255400-119255600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:119255400-119255600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:119257800-119259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:119258600-119259800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:119259800-119265000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:119264600-119264800	Enhancers	Brain Hippocampus Middle	brain
32	chr12:119264600-119265600	Enhancers	Brain Substantia Nigra	brain
33	chr12:119264600-119265800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:119264800-119265000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:119264800-119265400	Enhancers	Brain Anterior Caudate	brain
36	chr12:119264800-119265800	Enhancers	Brain Angular Gyrus	brain
37	chr12:119264800-119265800	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:119265000-119265200	Active TSS	Brain Hippocampus Middle	brain
39	chr12:119265000-119265400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:119265200-119265400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr12:119265400-119265600	Active TSS	Brain Hippocampus Middle	brain
42	chr12:119265400-119266000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:119265400-119266200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:119265600-119266400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:119265800-119267400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:119267600-119267800	Enhancers	Brain Angular Gyrus	brain
47	chr12:119267800-119269400	Enhancers	Fetal Muscle Leg	muscle
48	chr12:119268400-119268800	Enhancers	Fetal Brain Male	brain
49	chr12:119279400-119282000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:119279600-119279800	Enhancers	Brain Hippocampus Middle	brain

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