Variant report

Variant	nsv559396
Chromosome Location	chr12:74586210-74679054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:233)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:233 , 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	chr12:74677511-74677734	K562	blood:	n/a	n/a
2	ARID3A	chr12:74656460-74656499	K562	blood:	n/a	n/a
3	BHLHE40	chr12:74653397-74653481	HepG2	liver:	n/a	n/a
4	CBX3	chr12:74647665-74647875	K562	blood:	n/a	n/a
5	CEBPB	chr12:74637033-74637227	K562	blood:	n/a	chr12:74637153-74637164
6	CEBPB	chr12:74650792-74650976	A549	lung:	n/a	n/a
7	CEBPB	chr12:74629122-74629482	K562	blood:	n/a	n/a
8	CEBPB	chr12:74633585-74633954	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:74629133-74629483	K562	blood:	n/a	n/a
10	CEBPB	chr12:74621716-74622011	IMR90	lung:	n/a	n/a
11	CEBPB	chr12:74647653-74647821	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:74621712-74622235	A549	lung:	n/a	n/a
13	CEBPB	chr12:74658260-74658513	IMR90	lung:	n/a	chr12:74658331-74658342
14	CEBPB	chr12:74637060-74637260	H1-hESC	embryonic stem cell:	n/a	chr12:74637153-74637164
15	CEBPB	chr12:74658206-74658517	HepG2	liver:	n/a	chr12:74658331-74658342
16	CEBPB	chr12:74658271-74658476	A549	lung:	n/a	chr12:74658331-74658342
17	CEBPB	chr12:74637031-74637293	HepG2	liver:	n/a	chr12:74637153-74637164
18	CEBPB	chr12:74658328-74658404	K562	blood:	n/a	chr12:74658331-74658342
19	CEBPB	chr12:74658158-74658471	H1-hESC	embryonic stem cell:	n/a	chr12:74658331-74658342
20	CEBPD	chr12:74629056-74629545	K562	blood:	n/a	n/a
21	CEBPD	chr12:74629170-74629552	K562	blood:	n/a	n/a
22	CHD1	chr12:74630885-74630911	GM12878	blood:	n/a	n/a
23	CHD2	chr12:74621238-74621247	HepG2	liver:	n/a	n/a
24	CTCF	chr12:74662899-74663002	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:74662860-74663010	NHEK	skin:	n/a	n/a
26	CTCF	chr12:74662840-74662990	HMEC	breast:	n/a	n/a
27	CTCF	chr12:74586897-74586906	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:74663867-74663955	LNCaP	prostate:	n/a	n/a
29	CTCF	chr12:74612432-74612489	GM20000	blood:	n/a	n/a
30	CTCF	chr12:74610900-74611050	Caco-2	colon:	n/a	n/a
31	CTCF	chr12:74663828-74664009	A549	lung:	n/a	n/a
32	CTCF	chr12:74663862-74663941	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:74660122-74660137	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr12:74590177-74590185	K562	blood:	n/a	n/a
35	CTCF	chr12:74662913-74662973	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:74662914-74662999	A549	lung:	n/a	n/a
37	CTCF	chr12:74663720-74663870	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:74662880-74663030	HEK293	kidney:	n/a	n/a
39	CTCF	chr12:74667770-74667820	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr12:74662892-74662955	LNCaP	prostate:	n/a	n/a
41	CTCF	chr12:74663868-74663990	LNCaP	prostate:	n/a	n/a
42	CTCF	chr12:74663786-74664025	A549	lung:	n/a	n/a
43	CTCF	chr12:74591580-74591730	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr12:74662920-74663004	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr12:74638658-74638731	LNCaP	prostate:	n/a	n/a
46	CTCF	chr12:74662760-74662910	HMEC	breast:	n/a	n/a
47	CTCF	chr12:74663775-74664122	A549	lung:	n/a	n/a
48	CTCF	chr12:74637202-74637245	GM10248	blood:	n/a	n/a
49	CTCF	chr12:74662860-74663010	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr12:74662910-74662985	MCF-7	breast:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-5	chr12:74668732-74669011	NONHSAT029501
2	lnc-KCNC2-3	chr12:74642417-74642627	ENSG00000257183.1
3	lnc-KCNC2-3	chr12:74644265-74644361	ENSG00000257183.1
4	lnc-KCNC2-3	chr12:74677374-74677449	ENSG00000257183.1
5	lnc-KCNC2-2	chr12:74678816-74678873	ENSG00000251138
6	lnc-KCNC2-3	chr12:74663089-74663233	ENSG00000257183.1

No data

Variant related genes	Relation type
ENSG00000257183	TF binding region
ENSG00000257113	TF binding region
ENSG00000251138	chromatin interactions
ENSG00000257113	chromatin interactions
ENSG00000257364	chromatin interactions
DNMT1	miRNA target sites

Extended variants
information (count: 3153 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3153 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574156682	chr12:74586620-74586621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543181531	chr12:74586632-74586633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559752215	chr12:74586635-74586636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114820100	chr12:74586677-74586678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150405436	chr12:74586691-74586692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200009590	chr12:74586714-74586715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565450377	chr12:74586717-74586718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184941709	chr12:74586815-74586816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371195100	chr12:74586837-74586838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568490576	chr12:74586860-74586861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561180199	chr12:74586889-74586890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528921530	chr12:74586892-74586893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548689737	chr12:74586918-74586919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565288642	chr12:74586945-74586946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149170771	chr12:74586951-74586952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551394947	chr12:74586992-74586993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571445939	chr12:74587091-74587092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78005452	chr12:74587106-74587107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569844530	chr12:74587111-74587112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11179968	chr12:74587120-74587121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115380206	chr12:74587130-74587131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538450366	chr12:74587157-74587158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558257808	chr12:74587165-74587166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541865200	chr12:74587239-74587240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553509820	chr12:74587248-74587249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573234849	chr12:74587316-74587317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570629784	chr12:74587334-74587335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578130861	chr12:74587426-74587427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188928457	chr12:74587437-74587438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575826523	chr12:74587485-74587486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66590102	chr12:74587511-74587512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561118583	chr12:74587533-74587534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67176762	chr12:74587549-74587550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574034507	chr12:74587582-74587583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542273239	chr12:74587623-74587624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35636618	chr12:74587643-74587644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34787026	chr12:74587651-74587652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150910011	chr12:74587666-74587667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559012593	chr12:74587716-74587717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528234588	chr12:74587718-74587719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11179969	chr12:74587745-74587746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182061581	chr12:74587837-74587838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542547784	chr12:74587868-74587869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs267603666	chr12:74587927-74587928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530685245	chr12:74587958-74587959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550919136	chr12:74587962-74587963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567424348	chr12:74587964-74587965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185289564	chr12:74588039-74588040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116564511	chr12:74588045-74588046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566849693	chr12:74588082-74588083	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74586600-74587600	Enhancers	Brain Germinal Matrix	brain
2	chr12:74587600-74589200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:74589200-74590200	Enhancers	Brain Germinal Matrix	brain
4	chr12:74597800-74598200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:74597800-74598200	Enhancers	HMEC	breast
6	chr12:74597800-74598400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:74598000-74629200	Weak transcription	K562	blood
8	chr12:74611200-74611600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:74629200-74630200	Enhancers	K562	blood
10	chr12:74630200-74634800	Weak transcription	K562	blood
11	chr12:74634800-74635200	Strong transcription	K562	blood
12	chr12:74635200-74636200	Weak transcription	K562	blood
13	chr12:74636000-74636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:74636000-74636800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:74636200-74636600	Strong transcription	K562	blood
16	chr12:74636600-74678000	Weak transcription	K562	blood
17	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:74649800-74650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:74652200-74652400	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:74652200-74652400	Enhancers	Brain Hippocampus Middle	brain
21	chr12:74652200-74653600	Enhancers	Brain Substantia Nigra	brain
22	chr12:74652400-74653400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:74652600-74653200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:74652800-74653400	Enhancers	Fetal Heart	heart
25	chr12:74652800-74653600	Enhancers	A549	lung
26	chr12:74653000-74653600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:74653200-74653600	Enhancers	Brain Hippocampus Middle	brain
28	chr12:74653400-74653600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr12:74653400-74653800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:74653400-74653800	Enhancers	Brain Anterior Caudate	brain
31	chr12:74653400-74653800	Flanking Active TSS	Fetal Heart	heart
32	chr12:74653600-74653800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:74653600-74653800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr12:74653600-74657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:74653800-74654600	Enhancers	Fetal Heart	heart
36	chr12:74654400-74654600	Enhancers	Placenta	Placenta
37	chr12:74654600-74657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:74657600-74658000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:74657600-74658000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:74657600-74658400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:74657800-74658400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:74658200-74658800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:74658400-74658600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:74658400-74658600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:74658600-74658800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:74658600-74661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:74661200-74661600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:74661200-74661600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:74661200-74662000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:74661200-74662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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