Variant report

Variant	nsv1048747
Chromosome Location	chr12:74597411-74674733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 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	chr12:74650792-74650976	A549	lung:	n/a	n/a
6	CEBPB	chr12:74658206-74658517	HepG2	liver:	n/a	chr12:74658331-74658342
7	CEBPB	chr12:74658328-74658404	K562	blood:	n/a	chr12:74658331-74658342
8	CEBPB	chr12:74658260-74658513	IMR90	lung:	n/a	chr12:74658331-74658342
9	CEBPB	chr12:74637031-74637293	HepG2	liver:	n/a	chr12:74637153-74637164
10	CEBPB	chr12:74658158-74658471	H1-hESC	embryonic stem cell:	n/a	chr12:74658331-74658342
11	CEBPB	chr12:74621716-74622011	IMR90	lung:	n/a	n/a
12	CEBPB	chr12:74658271-74658476	A549	lung:	n/a	chr12:74658331-74658342
13	CEBPB	chr12:74637033-74637227	K562	blood:	n/a	chr12:74637153-74637164
14	CEBPB	chr12:74647653-74647821	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr12:74629133-74629483	K562	blood:	n/a	n/a
16	CEBPB	chr12:74621712-74622235	A549	lung:	n/a	n/a
17	CEBPB	chr12:74629122-74629482	K562	blood:	n/a	n/a
18	CEBPB	chr12:74633585-74633954	HepG2	liver:	n/a	n/a
19	CEBPD	chr12:74629056-74629545	K562	blood:	n/a	n/a
20	CEBPD	chr12:74629170-74629552	K562	blood:	n/a	n/a
21	CHD1	chr12:74630885-74630911	GM12878	blood:	n/a	n/a
22	CHD2	chr12:74621238-74621247	HepG2	liver:	n/a	n/a
23	CTCF	chr12:74662860-74663010	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr12:74662840-74662990	HMEC	breast:	n/a	n/a
25	CTCF	chr12:74638658-74638731	LNCaP	prostate:	n/a	n/a
26	CTCF	chr12:74663720-74663870	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:74663775-74664122	A549	lung:	n/a	n/a
28	CTCF	chr12:74662860-74663010	NHEK	skin:	n/a	n/a
29	CTCF	chr12:74662760-74662910	HMEC	breast:	n/a	n/a
30	CTCF	chr12:74662798-74663009	A549	lung:	n/a	n/a
31	CTCF	chr12:74662920-74663004	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:74662892-74662955	LNCaP	prostate:	n/a	n/a
33	CTCF	chr12:74660122-74660137	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr12:74662899-74663002	MCF-7	breast:	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	chr12:74663862-74663941	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:74667770-74667820	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr12:74663828-74664009	A549	lung:	n/a	n/a
40	CTCF	chr12:74612432-74612489	GM20000	blood:	n/a	n/a
41	CTCF	chr12:74637202-74637245	GM10248	blood:	n/a	n/a
42	CTCF	chr12:74663786-74664025	A549	lung:	n/a	n/a
43	CTCF	chr12:74662880-74663030	HEK293	kidney:	n/a	n/a
44	CTCF	chr12:74662872-74662996	GM12878	blood:	n/a	n/a
45	CTCF	chr12:74662760-74662910	A549	lung:	n/a	n/a
46	CTCF	chr12:74663867-74663955	LNCaP	prostate:	n/a	n/a
47	CTCF	chr12:74618310-74618394	GM20000	blood:	n/a	n/a
48	CTCF	chr12:74662910-74662985	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:74663868-74663990	LNCaP	prostate:	n/a	n/a
50	CTCF	chr12:74610900-74611050	Caco-2	colon:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74609981..74612603-chr12:74615480..74618314,2	K562	blood:
2	chr12:74573561..74575455-chr12:74654364..74657073,2	K562	blood:
3	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:
4	chr12:74636496..74638215-chr12:74687391..74689120,2	K562	blood:
5	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
6	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
7	chr12:74596988..74600008-chr12:74601826..74604825,3	K562	blood:
8	chr12:74665740..74669751-chr12:74671344..74674608,3	K562	blood:
9	chr12:74666319..74668697-chr12:74685247..74688031,2	K562	blood:
10	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
11	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:
12	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
13	chr12:74596988..74600008-chr12:74601826..74604825,3	K562	blood:
14	chr12:74651832..74654343-chr12:74685350..74686899,2	K562	blood:
15	chr12:74609981..74612603-chr12:74615480..74618314,2	K562	blood:
16	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
17	chr12:74564280..74566761-chr12:74606459..74609033,2	K562	blood:
18	chr12:74663321..74665597-chr12:74668555..74670955,2	K562	blood:
19	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 2863 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2863 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185604026	chr12:74597824-74597825	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575451982	chr12:74597855-74597856	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75043493	chr12:74597859-74597860	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61932947	chr12:74597861-74597862	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574640724	chr12:74597899-74597900	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148796931	chr12:74597992-74597993	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs66654091	chr12:74598002-74598003	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181523387	chr12:74598017-74598018	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186220832	chr12:74598051-74598052	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562637317	chr12:74598072-74598073	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201774626	chr12:74598104-74598105	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386764279	chr12:74598105-74598106	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67506008	chr12:74598106-74598107	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35443691	chr12:74598107-74598108	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185137326	chr12:74598128-74598129	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111293592	chr12:74598167-74598168	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547780789	chr12:74598168-74598169	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570987351	chr12:74598171-74598172	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190830375	chr12:74598199-74598200	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78514956	chr12:74598205-74598206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568952909	chr12:74598207-74598208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537975906	chr12:74598231-74598232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554519912	chr12:74598232-74598233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79255597	chr12:74598258-74598259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534051831	chr12:74598386-74598387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567311552	chr12:74598387-74598388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74914840	chr12:74598393-74598394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183914797	chr12:74598419-74598420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35070752	chr12:74598467-74598468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74726259	chr12:74598481-74598482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576096148	chr12:74598494-74598495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552165723	chr12:74598504-74598505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562070724	chr12:74598508-74598509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527697830	chr12:74598525-74598526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547811284	chr12:74598577-74598578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564621390	chr12:74598601-74598602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73352270	chr12:74598637-74598638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs386764280	chr12:74598661-74598662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570283923	chr12:74598689-74598690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192418828	chr12:74598717-74598718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547988407	chr12:74598780-74598781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370166934	chr12:74598828-74598829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35910036	chr12:74598837-74598838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570300455	chr12:74598876-74598877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552744475	chr12:74598879-74598880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546157358	chr12:74598890-74598891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146319783	chr12:74598895-74598896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182839635	chr12:74599023-74599024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563905483	chr12:74599095-74599096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7486961	chr12:74599124-74599125	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74597800-74598200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:74597800-74598200	Enhancers	HMEC	breast
3	chr12:74597800-74598400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:74598000-74629200	Weak transcription	K562	blood
5	chr12:74611200-74611600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:74629200-74630200	Enhancers	K562	blood
7	chr12:74630200-74634800	Weak transcription	K562	blood
8	chr12:74634800-74635200	Strong transcription	K562	blood
9	chr12:74635200-74636200	Weak transcription	K562	blood
10	chr12:74636000-74636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:74636000-74636800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:74636200-74636600	Strong transcription	K562	blood
13	chr12:74636600-74678000	Weak transcription	K562	blood
14	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:74649800-74650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:74652200-74652400	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:74652200-74652400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:74652200-74653600	Enhancers	Brain Substantia Nigra	brain
19	chr12:74652400-74653400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:74652600-74653200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:74652800-74653400	Enhancers	Fetal Heart	heart
22	chr12:74652800-74653600	Enhancers	A549	lung
23	chr12:74653000-74653600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:74653200-74653600	Enhancers	Brain Hippocampus Middle	brain
25	chr12:74653400-74653600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr12:74653400-74653800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:74653400-74653800	Enhancers	Brain Anterior Caudate	brain
28	chr12:74653400-74653800	Flanking Active TSS	Fetal Heart	heart
29	chr12:74653600-74653800	Active TSS	Brain Cingulate Gyrus	brain
30	chr12:74653600-74653800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr12:74653600-74657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:74653800-74654600	Enhancers	Fetal Heart	heart
33	chr12:74654400-74654600	Enhancers	Placenta	Placenta
34	chr12:74654600-74657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:74657600-74658000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:74657600-74658000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:74657600-74658400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:74657800-74658400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:74658200-74658800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:74658400-74658600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:74658400-74658600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:74658600-74658800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:74658600-74661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:74661200-74661600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:74661200-74661600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:74661200-74662000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:74661200-74662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:74661600-74662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:74662000-74664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:74662800-74663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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