Variant report

Variant	nsv973057
Chromosome Location	chr12:42607675-42611336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:42609543-42609554	A549	lung:	n/a	n/a
2	CUX1	chr12:42610678-42610752	GM12878	blood:	n/a	n/a
3	E2F4	chr12:42610931-42610972	MCF10A-Er-Src	breast:	n/a	n/a
4	FAM48A	chr12:42609395-42609495	GM12878	blood:	n/a	n/a
5	GATA3	chr12:42607598-42607748	SH-SY5Y	brain:	n/a	chr12:42607730-42607741 chr12:42607643-42607654
6	MXI1	chr12:42606555-42608010	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr12:42607608-42608351	ECC-1	luminal epithelium:	n/a	n/a
8	NFYB	chr12:42610765-42611073	GM12878	blood:	n/a	n/a
9	TCF7L2	chr12:42607897-42608126	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:42605935..42607831-chr12:42611202..42613567,2	K562	blood:
2	chr12:42610242..42612144-chr12:42612855..42615684,2	K562	blood:
3	chr12:42528143..42530319-chr12:42607718..42609289,2	MCF-7	breast:
4	chr12:42609074..42611841-chr12:42630116..42632105,3	MCF-7	breast:
5	chr12:42605935..42607831-chr12:42611202..42613567,2	K562	blood:
6	chr12:42601252..42603432-chr12:42605930..42608444,2	K562	blood:
7	chr12:42537474..42540100-chr12:42609019..42612283,3	K562	blood:

No data

Variant related genes	Relation type
YAF2	TF binding region
ENSG00000151233	chromatin interactions
ENSG00000015153	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569099805	chr12:42607682-42607683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541723897	chr12:42607685-42607686	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs367571610	chr12:42607690-42607691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114204481	chr12:42607748-42607749	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549463882	chr12:42607751-42607752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372210539	chr12:42607787-42607788	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531514485	chr12:42607788-42607789	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548084110	chr12:42607804-42607805	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566640911	chr12:42607824-42607825	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs533891413	chr12:42607835-42607836	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558722110	chr12:42607851-42607852	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377722950	chr12:42607857-42607858	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567671914	chr12:42607918-42607919	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs376786165	chr12:42607943-42607944	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570540894	chr12:42607952-42607953	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369700154	chr12:42607953-42607954	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576637939	chr12:42607993-42607994	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs10492388	chr12:42608001-42608002	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs556115962	chr12:42608027-42608028	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546031860	chr12:42608034-42608035	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192428795	chr12:42608038-42608039	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376378716	chr12:42608048-42608049	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565371169	chr12:42608118-42608119	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145380623	chr12:42608138-42608139	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542480294	chr12:42608149-42608150	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553959905	chr12:42608164-42608165	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572337571	chr12:42608182-42608183	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545963723	chr12:42608230-42608231	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564285137	chr12:42608235-42608236	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149220319	chr12:42608284-42608285	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541362323	chr12:42608343-42608344	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184971042	chr12:42608361-42608362	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562070841	chr12:42608369-42608370	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529968791	chr12:42608391-42608392	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61940227	chr12:42608406-42608407	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs566758870	chr12:42608410-42608411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527511913	chr12:42608467-42608468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377476060	chr12:42608473-42608474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189006707	chr12:42608487-42608488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114047398	chr12:42608489-42608490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537906930	chr12:42608515-42608516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146921260	chr12:42608577-42608578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368203178	chr12:42608614-42608615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535087710	chr12:42608623-42608624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6582385	chr12:42608626-42608627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs572400357	chr12:42608634-42608635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374646310	chr12:42608651-42608652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368165778	chr12:42608667-42608668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192267114	chr12:42608685-42608686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184877914	chr12:42608707-42608708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
2	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
6	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:42556800-42613200	Weak transcription	HMEC	breast
8	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
9	chr12:42568400-42623400	Weak transcription	K562	blood
10	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
11	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
13	chr12:42569800-42631000	Weak transcription	Gastric	stomach
14	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
15	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:42581800-42607800	Weak transcription	Ovary	ovary
21	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
23	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:42587200-42629600	Weak transcription	Lung	lung
25	chr12:42587400-42620000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:42587800-42619400	Weak transcription	Fetal Lung	lung
27	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:42588200-42607800	Weak transcription	Aorta	Aorta
29	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
30	chr12:42590200-42610400	Weak transcription	HSMMtube	muscle
31	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:42591600-42628200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:42593000-42613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:42593200-42620000	Weak transcription	Dnd41	blood
36	chr12:42594000-42615400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:42594400-42615400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:42595200-42611800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:42600400-42608000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:42600400-42610600	Weak transcription	NHLF	lung
41	chr12:42600600-42611600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:42602400-42628600	Weak transcription	Spleen	Spleen
43	chr12:42602400-42630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:42602800-42611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:42602800-42613200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:42602800-42628800	Weak transcription	HepG2	liver
47	chr12:42603000-42607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:42603000-42620200	Weak transcription	Primary B cells from cord blood	blood
49	chr12:42603600-42625800	Weak transcription	GM12878-XiMat	blood
50	chr12:42604400-42607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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