Variant report

Variant	nsv559395
Chromosome Location	chr12:74576059-74676381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:246)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:74656460-74656499	K562	blood:	n/a	n/a
2	BHLHE40	chr12:74653397-74653481	HepG2	liver:	n/a	n/a
3	CBX3	chr12:74647665-74647875	K562	blood:	n/a	n/a
4	CEBPB	chr12:74637060-74637260	H1-hESC	embryonic stem cell:	n/a	chr12:74637153-74637164
5	CEBPB	chr12:74621712-74622235	A549	lung:	n/a	n/a
6	CEBPB	chr12:74637033-74637227	K562	blood:	n/a	chr12:74637153-74637164
7	CEBPB	chr12:74650792-74650976	A549	lung:	n/a	n/a
8	CEBPB	chr12:74658158-74658471	H1-hESC	embryonic stem cell:	n/a	chr12:74658331-74658342
9	CEBPB	chr12:74658271-74658476	A549	lung:	n/a	chr12:74658331-74658342
10	CEBPB	chr12:74658206-74658517	HepG2	liver:	n/a	chr12:74658331-74658342
11	CEBPB	chr12:74637031-74637293	HepG2	liver:	n/a	chr12:74637153-74637164
12	CEBPB	chr12:74582394-74582629	K562	blood:	n/a	n/a
13	CEBPB	chr12:74579176-74579416	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:74629122-74629482	K562	blood:	n/a	n/a
15	CEBPB	chr12:74579207-74579455	IMR90	lung:	n/a	n/a
16	CEBPB	chr12:74658328-74658404	K562	blood:	n/a	chr12:74658331-74658342
17	CEBPB	chr12:74658260-74658513	IMR90	lung:	n/a	chr12:74658331-74658342
18	CEBPB	chr12:74647653-74647821	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr12:74579197-74579397	K562	blood:	n/a	n/a
20	CEBPB	chr12:74633585-74633954	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:74621716-74622011	IMR90	lung:	n/a	n/a
22	CEBPB	chr12:74629133-74629483	K562	blood:	n/a	n/a
23	CEBPD	chr12:74629056-74629545	K562	blood:	n/a	n/a
24	CEBPD	chr12:74629170-74629552	K562	blood:	n/a	n/a
25	CHD1	chr12:74630885-74630911	GM12878	blood:	n/a	n/a
26	CHD2	chr12:74621238-74621247	HepG2	liver:	n/a	n/a
27	CTCF	chr12:74612432-74612489	GM20000	blood:	n/a	n/a
28	CTCF	chr12:74586897-74586906	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:74662914-74662999	A549	lung:	n/a	n/a
30	CTCF	chr12:74662910-74662985	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:74663720-74663870	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:74663868-74663990	LNCaP	prostate:	n/a	n/a
33	CTCF	chr12:74638658-74638731	LNCaP	prostate:	n/a	n/a
34	CTCF	chr12:74662798-74663009	A549	lung:	n/a	n/a
35	CTCF	chr12:74662840-74662990	HMEC	breast:	n/a	n/a
36	CTCF	chr12:74662920-74663004	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:74590177-74590185	K562	blood:	n/a	n/a
38	CTCF	chr12:74637202-74637245	GM10248	blood:	n/a	n/a
39	CTCF	chr12:74662892-74662955	LNCaP	prostate:	n/a	n/a
40	CTCF	chr12:74662860-74663010	NHEK	skin:	n/a	n/a
41	CTCF	chr12:74663828-74664009	A549	lung:	n/a	n/a
42	CTCF	chr12:74663786-74664025	A549	lung:	n/a	n/a
43	CTCF	chr12:74662760-74662910	A549	lung:	n/a	n/a
44	CTCF	chr12:74667770-74667820	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr12:74663775-74664122	A549	lung:	n/a	n/a
46	CTCF	chr12:74663862-74663941	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:74618310-74618394	GM20000	blood:	n/a	n/a
48	CTCF	chr12:74591580-74591730	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:74662880-74663030	HEK293	kidney:	n/a	n/a
50	CTCF	chr12:74660122-74660137	Spleen_OC	spleen:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:74584693..74586459-chr12:74588249..74590521,2	K562	blood:
2	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:
3	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
4	chr12:74578180..74580078-chr12:74586581..74588937,2	K562	blood:
5	chr12:74573561..74575455-chr12:74654364..74657073,2	K562	blood:
6	chr12:74584848..74587275-chr12:74588348..74590290,2	MCF-7	breast:
7	chr12:74576549..74579038-chr12:74580124..74581922,2	MCF-7	breast:
8	chr12:74564480..74567461-chr12:74575954..74578864,3	K562	blood:
9	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
10	chr12:74576549..74579038-chr12:74580124..74581922,2	MCF-7	breast:
11	chr12:74636496..74638215-chr12:74687391..74689120,2	K562	blood:
12	chr12:74609981..74612603-chr12:74615480..74618314,2	K562	blood:
13	chr12:74563522..74565469-chr12:74584135..74585819,3	K562	blood:
14	chr12:74389722..74391980-chr12:74584509..74586133,2	K562	blood:
15	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
16	chr12:74584693..74586459-chr12:74588249..74590521,2	K562	blood:
17	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:
18	chr12:74578180..74580078-chr12:74586581..74588937,2	K562	blood:
19	chr12:74666319..74668697-chr12:74685247..74688031,2	K562	blood:
20	chr12:74651832..74654343-chr12:74685350..74686899,2	K562	blood:
21	chr12:74576003..74577686-chr12:74589371..74591140,2	K562	blood:
22	chr12:74576003..74577686-chr12:74589371..74591140,2	K562	blood:
23	chr12:74665740..74669751-chr12:74671344..74674608,3	K562	blood:
24	chr12:74609981..74612603-chr12:74615480..74618314,2	K562	blood:
25	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
26	chr12:74663321..74665597-chr12:74668555..74670955,2	K562	blood:
27	chr12:74596988..74600008-chr12:74601826..74604825,3	K562	blood:
28	chr12:74584848..74587275-chr12:74588348..74590290,2	MCF-7	breast:
29	chr12:74596988..74600008-chr12:74601826..74604825,3	K562	blood:
30	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
31	chr12:74564280..74566761-chr12:74606459..74609033,2	K562	blood:
32	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-3	chr12:74644265-74644361	ENSG00000257183.1
2	lnc-KCNC2-3	chr12:74663089-74663233	ENSG00000257183.1
3	lnc-ATXN7L3B-5	chr12:74668732-74669011	NONHSAT029501
4	lnc-KCNC2-3	chr12:74642417-74642627	ENSG00000257183.1

No data

Variant related genes	Relation type
ENSG00000257113	TF binding region
ENSG00000258320	chromatin interactions
ENSG00000257113	chromatin interactions
ENSG00000251138	chromatin interactions
ENSG00000257364	chromatin interactions

Extended variants
information (count: 3272 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3272 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12426157	chr12:74576059-74576060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375314427	chr12:74576075-74576076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541727935	chr12:74576082-74576083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12322717	chr12:74576090-74576091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs79409299	chr12:74576143-74576144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7316611	chr12:74576166-74576167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs563985856	chr12:74576170-74576171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533237305	chr12:74576213-74576214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549880216	chr12:74576214-74576215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569922886	chr12:74576223-74576224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535845794	chr12:74576341-74576342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66833634	chr12:74576356-74576357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113804224	chr12:74576385-74576386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535389824	chr12:74576390-74576391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369854333	chr12:74576397-74576398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575766748	chr12:74576411-74576412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533023988	chr12:74576439-74576440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578232976	chr12:74576457-74576458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539504521	chr12:74576467-74576468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12424820	chr12:74576497-74576498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138204085	chr12:74576501-74576502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149517327	chr12:74576532-74576533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561529556	chr12:74576613-74576614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369428643	chr12:74576686-74576687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555109090	chr12:74576718-74576719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144030005	chr12:74576725-74576726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540954724	chr12:74576735-74576736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182531606	chr12:74576888-74576889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532981781	chr12:74576895-74576896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140620435	chr12:74576992-74576993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563816693	chr12:74577071-74577072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528578221	chr12:74577081-74577082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10785095	chr12:74577119-74577120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185782046	chr12:74577128-74577129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560386062	chr12:74577158-74577159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190350930	chr12:74577172-74577173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72194994	chr12:74577221-74577222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35167603	chr12:74577222-74577223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76369619	chr12:74577250-74577251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376595769	chr12:74577254-74577255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377266137	chr12:74577264-74577265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182238404	chr12:74577265-74577266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73180769	chr12:74577290-74577291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539675695	chr12:74577313-74577314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553591746	chr12:74577358-74577359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370784378	chr12:74577381-74577382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77566961	chr12:74577392-74577393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535243625	chr12:74577475-74577476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111845171	chr12:74577599-74577600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555320105	chr12:74577608-74577609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74576000-74578600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:74578200-74578800	ZNF genes & repeats	Pancreas	Pancrea
3	chr12:74578400-74579000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:74578600-74578800	Enhancers	Gastric	stomach
5	chr12:74578600-74579000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:74578600-74579200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:74579200-74581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:74586600-74587600	Enhancers	Brain Germinal Matrix	brain
9	chr12:74587600-74589200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:74589200-74590200	Enhancers	Brain Germinal Matrix	brain
11	chr12:74597800-74598200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:74597800-74598200	Enhancers	HMEC	breast
13	chr12:74597800-74598400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:74598000-74629200	Weak transcription	K562	blood
15	chr12:74611200-74611600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:74629200-74630200	Enhancers	K562	blood
17	chr12:74630200-74634800	Weak transcription	K562	blood
18	chr12:74634800-74635200	Strong transcription	K562	blood
19	chr12:74635200-74636200	Weak transcription	K562	blood
20	chr12:74636000-74636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:74636000-74636800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:74636200-74636600	Strong transcription	K562	blood
23	chr12:74636600-74678000	Weak transcription	K562	blood
24	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:74649800-74650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:74652200-74652400	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:74652200-74652400	Enhancers	Brain Hippocampus Middle	brain
28	chr12:74652200-74653600	Enhancers	Brain Substantia Nigra	brain
29	chr12:74652400-74653400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:74652600-74653200	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:74652800-74653400	Enhancers	Fetal Heart	heart
32	chr12:74652800-74653600	Enhancers	A549	lung
33	chr12:74653000-74653600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:74653200-74653600	Enhancers	Brain Hippocampus Middle	brain
35	chr12:74653400-74653600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr12:74653400-74653800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:74653400-74653800	Enhancers	Brain Anterior Caudate	brain
38	chr12:74653400-74653800	Flanking Active TSS	Fetal Heart	heart
39	chr12:74653600-74653800	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:74653600-74653800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr12:74653600-74657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:74653800-74654600	Enhancers	Fetal Heart	heart
43	chr12:74654400-74654600	Enhancers	Placenta	Placenta
44	chr12:74654600-74657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:74657600-74658000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:74657600-74658000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:74657600-74658400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:74657800-74658400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:74658200-74658800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:74658400-74658600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

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