Variant report

Variant	nsv975645
Chromosome Location	chr12:9917034-9924808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:231)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:231 , 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	chr12:9923093-9923787	K562	blood:	n/a	n/a
2	ARID3A	chr12:9917283-9917953	K562	blood:	n/a	n/a
3	ARID3A	chr12:9922225-9922253	K562	blood:	n/a	n/a
4	ARID3A	chr12:9921201-9921881	K562	blood:	n/a	chr12:9921693-9921709
5	ATF1	chr12:9917263-9917753	K562	blood:	n/a	n/a
6	ATF2	chr12:9917106-9918080	GM12878	blood:	n/a	n/a
7	ATF2	chr12:9917173-9918164	GM12878	blood:	n/a	n/a
8	ATF3	chr12:9917314-9917697	K562	blood:	n/a	n/a
9	BACH1	chr12:9922609-9922652	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr12:9917362-9917730	GM12878	blood:	n/a	n/a
11	BCL11A	chr12:9917313-9917976	GM12878	blood:	n/a	chr12:9917539-9917546
12	BCL3	chr12:9917429-9918045	GM12878	blood:	n/a	chr12:9917539-9917546
13	BCLAF1	chr12:9917299-9918112	GM12878	blood:	n/a	chr12:9917539-9917546
14	BCLAF1	chr12:9917205-9917806	GM12878	blood:	n/a	chr12:9917539-9917546
15	BHLHE40	chr12:9916982-9917903	K562	blood:	n/a	n/a
16	BHLHE40	chr12:9922794-9923021	K562	blood:	n/a	n/a
17	BHLHE40	chr12:9917216-9918052	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:9921960-9922251	GM12878	blood:	n/a	n/a
19	BRCA1	chr12:9917019-9917219	GM12878	blood:	n/a	n/a
20	CBX3	chr12:9917283-9917758	K562	blood:	n/a	n/a
21	CBX3	chr12:9917310-9917711	K562	blood:	n/a	n/a
22	CCNT2	chr12:9917376-9918071	K562	blood:	n/a	chr12:9917536-9917556
23	CEBPB	chr12:9917418-9917761	GM12878	blood:	n/a	n/a
24	CEBPB	chr12:9917152-9917680	K562	blood:	n/a	n/a
25	CEBPB	chr12:9917244-9918136	GM12878	blood:	n/a	n/a
26	CEBPB	chr12:9917241-9917755	K562	blood:	n/a	n/a
27	CEBPD	chr12:9917303-9917842	K562	blood:	n/a	n/a
28	CEBPD	chr12:9917324-9917757	K562	blood:	n/a	n/a
29	CHD1	chr12:9922145-9922181	GM12878	blood:	n/a	n/a
30	CHD2	chr12:9917296-9918041	GM12878	blood:	n/a	n/a
31	CREB1	chr12:9917142-9917866	K562	blood:	n/a	n/a
32	CREB1	chr12:9917272-9917749	K562	blood:	n/a	n/a
33	CREB1	chr12:9917139-9918122	GM12878	blood:	n/a	n/a
34	CREB1	chr12:9917199-9917849	GM12878	blood:	n/a	n/a
35	CTCF	chr12:9923740-9923890	HVMF	connective:	n/a	n/a
36	CTCF	chr12:9923660-9923810	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr12:9923740-9923890	A549	lung:	n/a	n/a
38	CTCF	chr12:9923680-9923830	HCFaa	heart:	n/a	n/a
39	CTCF	chr12:9923680-9923830	HMEC	breast:	n/a	n/a
40	CTCF	chr12:9917479-9917852	K562	blood:	n/a	chr12:9917783-9917791 chr12:9917782-9917790
41	CTCF	chr12:9923600-9923750	GM12872	blood:	n/a	n/a
42	CTCF	chr12:9923620-9923770	GM12878	blood:	n/a	n/a
43	CTCF	chr12:9923620-9923770	BJ	skin:	n/a	n/a
44	CTCF	chr12:9923600-9923750	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr12:9923710-9923797	K562	blood:	n/a	n/a
46	CTCF	chr12:9923660-9923810	AG09319	gingival:	n/a	n/a
47	CTCF	chr12:9923620-9923871	K562	blood:	n/a	n/a
48	CUX1	chr12:9921563-9922556	GM12878	blood:	n/a	n/a
49	CUX1	chr12:9916645-9918269	GM12878	blood:	n/a	chr12:9916944-9916953
50	CUX1	chr12:9917366-9918418	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:
2	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
3	chr12:9924505..9927030-chr12:9928111..9932157,3	K562	blood:
4	chr12:9923247..9924749-chr12:9924893..9927763,2	MCF-7	breast:
5	chr12:9922886..9925340-chr12:9946588..9948897,3	K562	blood:
6	chr12:9921450..9923260-chr12:9950246..9952322,2	K562	blood:
7	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:

No data

Variant related genes	Relation type
CD69	TF binding region

Extended variants
information (count: 224 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3176775	chr12:9917082-9917083	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112404087	chr12:9917084-9917085	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35614490	chr12:9917093-9917094	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3176774	chr12:9917106-9917107	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs547916859	chr12:9917138-9917139	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150854595	chr12:9917139-9917140	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76981588	chr12:9917147-9917148	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561718299	chr12:9917169-9917170	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188645979	chr12:9917210-9917211	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181089299	chr12:9917320-9917321	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11833226	chr12:9917353-9917354	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186141440	chr12:9917375-9917376	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79011807	chr12:9917379-9917380	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190617286	chr12:9917428-9917429	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182404241	chr12:9917464-9917465	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547721463	chr12:9917560-9917561	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563243314	chr12:9917578-9917579	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77583459	chr12:9917641-9917642	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs77757771	chr12:9917643-9917644	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570722778	chr12:9917691-9917692	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539674263	chr12:9917707-9917708	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147152408	chr12:9917709-9917710	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187409305	chr12:9917726-9917727	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140274657	chr12:9917744-9917745	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs144552116	chr12:9917749-9917750	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377060220	chr12:9917757-9917758	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs151225780	chr12:9917806-9917807	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73249981	chr12:9917829-9917830	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139184175	chr12:9917873-9917874	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs370854725	chr12:9917983-9917984	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114663975	chr12:9918000-9918001	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192252988	chr12:9918077-9918078	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs3176773	chr12:9918102-9918103	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs149931265	chr12:9918176-9918177	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555531678	chr12:9918205-9918206	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183157714	chr12:9918249-9918250	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs117006594	chr12:9918266-9918267	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144977920	chr12:9918290-9918291	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75745378	chr12:9918310-9918311	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75301484	chr12:9918312-9918313	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs3176772	chr12:9918321-9918322	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187448840	chr12:9918368-9918369	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149176514	chr12:9918437-9918438	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190336613	chr12:9918460-9918461	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs35853706	chr12:9918501-9918502	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs377006500	chr12:9918512-9918513	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182557420	chr12:9918552-9918553	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74062744	chr12:9918553-9918554	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145054465	chr12:9918554-9918555	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7966093	chr12:9918637-9918638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9913800-9917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:9914200-9917400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:9914200-9917800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:9914400-9917400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:9914600-9917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
11	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
13	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:9915600-9917200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:9916000-9917800	Enhancers	K562	blood
16	chr12:9916000-9918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:9916200-9918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:9916400-9917200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:9916400-9917400	Enhancers	Fetal Intestine Small	intestine
20	chr12:9916400-9917400	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:9916600-9917400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:9916600-9918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:9916600-9918400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:9916800-9917200	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:9916800-9917400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:9916800-9917400	Flanking Active TSS	Thymus	Thymus
27	chr12:9916800-9917400	Flanking Active TSS	Dnd41	blood
28	chr12:9917000-9917200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr12:9917000-9917200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:9917000-9917200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:9917000-9917400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:9917000-9917400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:9917000-9917800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:9917000-9918200	Enhancers	HUVEC	blood vessel
35	chr12:9917200-9917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:9917200-9917400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:9917200-9917400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:9917200-9917600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:9917200-9917600	Active TSS	Duodenum Mucosa	Duodenum
40	chr12:9917200-9917800	Active TSS	Primary B cells from cord blood	blood
41	chr12:9917400-9917600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:9917400-9917600	Enhancers	Esophagus	oesophagus
43	chr12:9917400-9917600	Enhancers	Dnd41	blood
44	chr12:9917400-9917800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:9917400-9917800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:9917400-9917800	Active TSS	Thymus	Thymus
47	chr12:9917400-9917800	Active TSS	GM12878-XiMat	blood
48	chr12:9917400-9918000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:9917400-9918000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:9917400-9918200	Weak transcription	Primary T cells fromperipheralblood	blood

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