Variant report

Variant	nsv819596
Chromosome Location	chr12:9113514-9141537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:9122699-9122963	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:9138649-9138900	HepG2	liver:	n/a	chr12:9138759-9138770
3	CEBPB	chr12:9138659-9138821	Hela-S3	cervix:	n/a	chr12:9138759-9138770
4	CEBPB	chr12:9138641-9138876	IMR90	lung:	n/a	chr12:9138759-9138770
5	CTCF	chr12:9122640-9122790	GM12871	blood:	n/a	n/a
6	CTCF	chr12:9126211-9126270	LNCaP	prostate:	n/a	n/a
7	CTCF	chr12:9121840-9121990	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr12:9122661-9122718	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr12:9122664-9122713	Lung_OC	lung:	n/a	n/a
10	EBF1	chr12:9137821-9137997	GM12878	blood:	n/a	n/a
11	ELK1	chr12:9134751-9134791	GM12878	blood:	n/a	n/a
12	EP300	chr12:9122701-9123373	HepG2	liver:	n/a	n/a
13	FOS	chr12:9132016-9132192	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr12:9122635-9123471	HepG2	liver:	n/a	n/a
15	FOXA1	chr12:9122650-9122925	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:9113656-9114012	HepG2	liver:	n/a	chr12:9113767-9113782
17	FOXA1	chr12:9122618-9123488	HepG2	liver:	n/a	n/a
18	FOXA1	chr12:9122603-9123065	HepG2	liver:	n/a	n/a
19	FOXA1	chr12:9113655-9113969	HepG2	liver:	n/a	chr12:9113767-9113782
20	FOXA1	chr12:9113556-9113899	HepG2	liver:	n/a	chr12:9113767-9113782
21	FOXA1	chr12:9113592-9113995	HepG2	liver:	n/a	chr12:9113767-9113782
22	FOXA2	chr12:9113633-9113949	HepG2	liver:	n/a	n/a
23	FOXA2	chr12:9122697-9122968	HepG2	liver:	n/a	n/a
24	GATA3	chr12:9136351-9136551	SH-SY5Y	brain:	n/a	n/a
25	IKZF1	chr12:9140192-9140506	GM12878	blood:	n/a	n/a
26	IRF1	chr12:9125189-9125191	K562	blood:	n/a	n/a
27	JUN	chr12:9132156-9132341	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr12:9131926-9132126	HepG2	liver:	n/a	chr12:9132055-9132066
29	JUND	chr12:9132872-9133166	HepG2	liver:	n/a	n/a
30	KAP1	chr12:9122747-9123415	HEK293	kidney:	n/a	n/a
31	KAP1	chr12:9132754-9133215	HEK293	kidney:	n/a	n/a
32	KAP1	chr12:9132128-9132491	HEK293	kidney:	n/a	n/a
33	KAP1	chr12:9132780-9133101	U2OS	brain:	n/a	n/a
34	POLR2A	chr12:9121708-9121901	A549	lung:	n/a	n/a
35	POLR2A	chr12:9133281-9133471	A549	lung:	n/a	n/a
36	POLR2A	chr12:9122463-9122644	A549	lung:	n/a	n/a
37	POLR2A	chr12:9115461-9115527	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:9134975-9134993	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:9121759-9121940	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:9139098-9139208	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:9123057-9123132	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:9126192-9126252	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:9133138-9133265	A549	lung:	n/a	n/a
44	POLR2A	chr12:9135933-9136000	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:9120973-9121110	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:9138002-9138079	MCF10A-Er-Src	breast:	n/a	n/a
47	RCOR1	chr12:9122854-9122889	HepG2	liver:	n/a	n/a
48	SETDB1	chr12:9132146-9132499	U2OS	brain:	n/a	n/a
49	SETDB1	chr12:9132708-9133242	U2OS	brain:	n/a	n/a
50	SETDB1	chr12:9126082-9126700	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:9103173..9105935-chr12:9114683..9116241,2	K562	blood:
2	chr12:9100815..9102650-chr12:9132066..9134707,2	MCF-7	breast:
3	chr12:9103173..9107180-chr12:9112850..9116183,4	K562	blood:
4	chr12:9099223..9102026-chr12:9119654..9122322,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHC1-3	chr12:9123674-9123822	NONHSAT026378
2	lnc-M6PR-1	chr12:9139771-9140077	ENSG00000257105.1
3	lnc-PHC1-3	chr12:9123025-9123122	NONHSAT026378
4	lnc-M6PR-1	chr12:9140908-9141026	ENSG00000257105.1

No data

Variant related genes	Relation type
KLRG1	TF binding region
ENSG00000139187	chromatin interactions
ENSG00000003056	chromatin interactions

Extended variants
information (count: 556 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183078704	chr12:9113521-9113522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11048262	chr12:9113559-9113560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11048264	chr12:9113581-9113582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs72437933	chr12:9113626-9113627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376217731	chr12:9113630-9113631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201185560	chr12:9113632-9113633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368173579	chr12:9113634-9113635	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs398116081	chr12:9113637-9113638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35828632	chr12:9113929-9113930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80318257	chr12:9113996-9113997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386760149	chr12:9114056-9114057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556627700	chr12:9114068-9114069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11048276	chr12:9114071-9114072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554929205	chr12:9114097-9114098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570018037	chr12:9114158-9114159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112227819	chr12:9114184-9114185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35020239	chr12:9114196-9114197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574268583	chr12:9114215-9114216	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535862792	chr12:9114227-9114228	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7315055	chr12:9114243-9114244	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142282821	chr12:9114259-9114260	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187842799	chr12:9114420-9114421	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535365746	chr12:9114435-9114436	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs56863648	chr12:9114488-9114489	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576577432	chr12:9114519-9114520	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112752873	chr12:9114573-9114574	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535023907	chr12:9114586-9114587	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7961355	chr12:9114631-9114632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs577815977	chr12:9114659-9114660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146062360	chr12:9114687-9114688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553697124	chr12:9114718-9114719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11048285	chr12:9114806-9114807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543622179	chr12:9114818-9114819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138850016	chr12:9114853-9114854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562626960	chr12:9114858-9114859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112325636	chr12:9114920-9114921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190366701	chr12:9114993-9114994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35930143	chr12:9115061-9115062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182979843	chr12:9115101-9115102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113002962	chr12:9115153-9115154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4883204	chr12:9115259-9115260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530808841	chr12:9115283-9115284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28755908	chr12:9115314-9115315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57401132	chr12:9115325-9115326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34171622	chr12:9115328-9115329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541894713	chr12:9115409-9115410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184641955	chr12:9115438-9115439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187967022	chr12:9115488-9115489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4140912	chr12:9115546-9115547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192990702	chr12:9115608-9115609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:9103600-9114000	Weak transcription	Fetal Kidney	kidney
3	chr12:9103600-9114200	Weak transcription	Aorta	Aorta
4	chr12:9103600-9114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9103600-9114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:9104000-9114400	Weak transcription	Psoas Muscle	Psoas
7	chr12:9104600-9113800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:9105000-9113600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:9105000-9113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:9106600-9116000	Weak transcription	Left Ventricle	heart
11	chr12:9106800-9114400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:9106800-9114600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:9108600-9115200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:9109000-9114600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9109000-9115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:9109000-9121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:9109400-9113800	Enhancers	Fetal Thymus	thymus
18	chr12:9109600-9114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:9110600-9114200	Weak transcription	K562	blood
20	chr12:9111000-9115600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:9112000-9113600	Enhancers	Thymus	Thymus
22	chr12:9112200-9116800	Weak transcription	Pancreas	Pancrea
23	chr12:9112600-9113800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:9112600-9113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:9112800-9113600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:9113200-9113600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:9113200-9113800	Enhancers	HepG2	liver
28	chr12:9113200-9114200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:9113400-9113800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:9113400-9113800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:9113400-9114600	Enhancers	Primary T cells from cord blood	blood
32	chr12:9113400-9115000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:9113600-9113800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr12:9113600-9115000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:9113600-9116000	Weak transcription	Thymus	Thymus
36	chr12:9113800-9114000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:9113800-9115600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:9114000-9114800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:9114200-9114600	ZNF genes & repeats	Aorta	Aorta
40	chr12:9114200-9114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:9114600-9115400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:9114800-9115000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:9114800-9115600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:9115400-9115600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:9121400-9122000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:9121400-9132600	Weak transcription	Psoas Muscle	Psoas
47	chr12:9121600-9122000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr12:9121600-9122600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:9121800-9122000	ZNF genes & repeats	Esophagus	oesophagus
50	chr12:9122000-9122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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