Variant report

Variant	esv3450180
Chromosome Location	chr12:42606625-42607772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:42606987-42607197	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:42606906-42607201	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr12:42606919-42607144	T-47D	breast:	n/a	n/a
4	GATA3	chr12:42607598-42607748	SH-SY5Y	brain:	n/a	chr12:42607730-42607741 chr12:42607643-42607654
5	MAX	chr12:42606880-42607196	MCF-7	breast:	n/a	n/a
6	MAX	chr12:42606978-42607189	NB4	blood:	n/a	n/a
7	MAX	chr12:42606875-42607300	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr12:42606555-42608010	SK-N-SH	brain:	n/a	n/a
9	MXI1	chr12:42606995-42607159	Hela-S3	cervix:	n/a	n/a
10	MYC	chr12:42606907-42607189	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr12:42606981-42607153	NB4	blood:	n/a	n/a
12	MYC	chr12:42606886-42607210	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr12:42607608-42608351	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr12:42606690-42607415	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr12:42606725-42607283	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr12:42607220-42607234	MCF10A-Er-Src	breast:	n/a	n/a
17	SIN3AK20	chr12:42606820-42607214	MCF-7	breast:	n/a	n/a
18	TCF12	chr12:42606758-42607352	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr12:42606710-42607282	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr12:42606738-42607248	SK-N-SH	brain:	n/a	n/a
21	USF1	chr12:42606892-42607230	ECC-1	luminal epithelium:	n/a	n/a
22	USF2	chr12:42606980-42607187	Hela-S3	cervix:	n/a	chr12:42607099-42607110

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42601252..42603432-chr12:42605930..42608444,2	K562	blood:
2	chr12:42605935..42607831-chr12:42611202..42613567,2	K562	blood:
3	chr12:42528143..42530319-chr12:42607718..42609289,2	MCF-7	breast:
4	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
5	chr12:42604828..42607249-chr12:42726467..42728548,2	MCF-7	breast:

No data

Variant related genes	Relation type
YAF2	TF binding region
ENSG00000015153	chromatin interactions
ENSG00000134283	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527738977	chr12:42606656-42606657	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376577462	chr12:42606668-42606669	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs552157347	chr12:42606687-42606688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs7316575	chr12:42606696-42606697	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs538563638	chr12:42606725-42606726	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs115760257	chr12:42606748-42606749	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569113494	chr12:42606767-42606768	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372697525	chr12:42606780-42606781	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs536106534	chr12:42606800-42606801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554742708	chr12:42606804-42606805	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11419731	chr12:42606864-42606865	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs397718085	chr12:42606865-42606866	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202017919	chr12:42606866-42606867	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199967223	chr12:42606868-42606869	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572980374	chr12:42606873-42606874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571856874	chr12:42606907-42606908	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs373326523	chr12:42606933-42606934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs533823173	chr12:42607000-42607001	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558605728	chr12:42607032-42607033	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140573616	chr12:42607036-42607037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs150060440	chr12:42607053-42607054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555912874	chr12:42607070-42607071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374948198	chr12:42607083-42607084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113207347	chr12:42607105-42607106	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563066708	chr12:42607115-42607116	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61940225	chr12:42607174-42607175	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs61940226	chr12:42607176-42607177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs530928892	chr12:42607218-42607219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542098041	chr12:42607231-42607232	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560689969	chr12:42607267-42607268	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs192678968	chr12:42607346-42607347	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182375342	chr12:42607362-42607363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564225926	chr12:42607445-42607446	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531625558	chr12:42607586-42607587	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565950544	chr12:42607637-42607638	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs187865469	chr12:42607646-42607647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555122222	chr12:42607652-42607653	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569099805	chr12:42607682-42607683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541723897	chr12:42607685-42607686	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367571610	chr12:42607690-42607691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs114204481	chr12:42607748-42607749	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs549463882	chr12:42607751-42607752	Weak transcription Enhancers	TF binding region	1 gene(s)	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:134 , 50 per page) page: 1 2 3

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	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:42556800-42613200	Weak transcription	HMEC	breast
9	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
11	chr12:42568400-42623400	Weak transcription	K562	blood
12	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
13	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
15	chr12:42569800-42631000	Weak transcription	Gastric	stomach
16	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
17	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:42579200-42606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:42581800-42607800	Weak transcription	Ovary	ovary
24	chr12:42583800-42606800	Weak transcription	HSMM	muscle
25	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
27	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:42587200-42629600	Weak transcription	Lung	lung
29	chr12:42587400-42620000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:42587600-42606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:42587800-42619400	Weak transcription	Fetal Lung	lung
32	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:42588200-42607800	Weak transcription	Aorta	Aorta
34	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
35	chr12:42590200-42610400	Weak transcription	HSMMtube	muscle
36	chr12:42591400-42606800	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:42591400-42607000	Weak transcription	Psoas Muscle	Psoas
38	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:42591600-42628200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:42592800-42607400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:42593000-42606800	Weak transcription	Left Ventricle	heart
43	chr12:42593000-42613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:42593200-42606800	Weak transcription	Fetal Thymus	thymus
45	chr12:42593200-42620000	Weak transcription	Dnd41	blood
46	chr12:42594000-42615400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:42594400-42615400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:42595200-42611800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:42595400-42607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:42598600-42607600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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