Variant report

Variant	esv3415110
Chromosome Location	chr12:123927349-123929297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123928815-123929330	HepG2	liver:	n/a	n/a
2	ATF2	chr12:123927203-123927661	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:123928770-123929307	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:123927413-123927616	K562	blood:	n/a	n/a
5	CEBPB	chr12:123928837-123929311	A549	lung:	n/a	n/a
6	CEBPB	chr12:123928848-123929250	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:123928967-123929167	K562	blood:	n/a	n/a
8	CEBPB	chr12:123927457-123927651	IMR90	lung:	n/a	n/a
9	CEBPB	chr12:123927452-123927660	K562	blood:	n/a	n/a
10	CEBPB	chr12:123928788-123929356	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:123928805-123929310	IMR90	lung:	n/a	n/a
12	CEBPB	chr12:123928988-123929210	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:123927365-123927733	A549	lung:	n/a	n/a
14	CEBPB	chr12:123928800-123929371	A549	lung:	n/a	n/a
15	E2F4	chr12:123929046-123929317	MCF10A-Er-Src	breast:	n/a	n/a
16	EBF1	chr12:123927326-123927519	GM12878	blood:	n/a	n/a
17	EP300	chr12:123928948-123929297	Hela-S3	cervix:	n/a	n/a
18	EP300	chr12:123928940-123929225	HepG2	liver:	n/a	n/a
19	FOS	chr12:123928884-123929294	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:123928902-123929298	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:123928938-123929283	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:123928879-123929294	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA2	chr12:123928924-123929223	HepG2	liver:	n/a	n/a
24	JUN	chr12:123928968-123929294	HepG2	liver:	n/a	n/a
25	JUND	chr12:123928941-123929280	HepG2	liver:	n/a	n/a
26	MEF2A	chr12:123927220-123927758	GM12878	blood:	n/a	n/a
27	MEF2A	chr12:123927356-123927789	GM12878	blood:	n/a	n/a
28	MEF2C	chr12:123927308-123927784	GM12878	blood:	n/a	chr12:123927527-123927542
29	MYC	chr12:123928982-123929330	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr12:123927226-123927711	GM12878	blood:	n/a	n/a
31	NFIC	chr12:123927127-123927733	GM12878	blood:	n/a	n/a
32	PAX5	chr12:123928717-123928953	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:123927247-123927764	HL-60	blood:	n/a	n/a
34	RFX5	chr12:123928865-123929575	IMR90	lung:	n/a	chr12:123929345-123929361 chr12:123929344-123929358 chr12:123929347-123929356 chr12:123929346-123929360
35	RUNX3	chr12:123927278-123927734	GM12878	blood:	n/a	n/a
36	RUNX3	chr12:123927234-123927767	GM12878	blood:	n/a	n/a
37	SMC3	chr12:123929009-123929250	HepG2	liver:	n/a	n/a
38	SPI1	chr12:123927376-123927572	GM12878	blood:	n/a	n/a
39	SPI1	chr12:123927403-123927555	K562	blood:	n/a	n/a
40	SPI1	chr12:123927166-123927737	HL-60	blood:	n/a	n/a
41	SPI1	chr12:123927232-123927715	HL-60	blood:	n/a	n/a
42	SPI1	chr12:123927254-123927666	GM12891	blood:	n/a	n/a
43	SPI1	chr12:123927318-123927649	GM12878	blood:	n/a	n/a
44	SPI1	chr12:123927279-123927639	GM12891	blood:	n/a	n/a
45	SPI1	chr12:123927144-123927860	GM12878	blood:	n/a	n/a
46	STAT3	chr12:123929015-123929213	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr12:123928952-123929268	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr12:123928997-123929221	MCF10A-Er-Src	breast:	n/a	n/a
49	TCF7L2	chr12:123928909-123929292	HepG2	liver:	n/a	n/a
50	TCF7L2	chr12:123928667-123929565	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:
2	chr12:123928730..123932409-chr12:123939432..123944416,8	MCF-7	breast:
3	chr12:123929026..123930879-chr12:124017061..124019174,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270445	TF binding region
ENSG00000150977	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000184209	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556343336	chr12:123927375-123927376	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs114737542	chr12:123927385-123927386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542152554	chr12:123927422-123927423	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560463809	chr12:123927439-123927440	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181411841	chr12:123927503-123927504	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545765224	chr12:123927507-123927508	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564062851	chr12:123927512-123927513	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs871163	chr12:123927513-123927514	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4254152	chr12:123927523-123927524	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549583809	chr12:123927553-123927554	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186038876	chr12:123927588-123927589	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529406901	chr12:123927683-123927684	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191993703	chr12:123927733-123927734	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7310314	chr12:123927743-123927744	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554076516	chr12:123927744-123927745	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7307257	chr12:123927746-123927747	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs140402060	chr12:123927749-123927750	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7134500	chr12:123927752-123927753	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7134600	chr12:123927773-123927774	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7307350	chr12:123927774-123927775	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374455886	chr12:123927819-123927820	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs13303004	chr12:123927915-123927916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111682184	chr12:123927942-123927943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66965260	chr12:123927978-123927979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398116952	chr12:123927988-123927989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569920654	chr12:123928046-123928047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527463491	chr12:123928058-123928059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370677550	chr12:123928059-123928060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372341685	chr12:123928060-123928061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576230605	chr12:123928069-123928070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200809866	chr12:123928078-123928079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369477180	chr12:123928300-123928301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537553439	chr12:123928314-123928315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555535848	chr12:123928322-123928323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145574561	chr12:123928411-123928412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112630471	chr12:123928426-123928427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373681091	chr12:123928432-123928433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181809893	chr12:123928494-123928495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572358581	chr12:123928529-123928530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187218506	chr12:123928544-123928545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564132066	chr12:123928573-123928574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148896420	chr12:123928584-123928585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376419722	chr12:123928608-123928609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76237473	chr12:123928658-123928659	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs80031510	chr12:123928659-123928660	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79118036	chr12:123928660-123928661	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143593573	chr12:123928665-123928666	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs28613184	chr12:123928666-123928667	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs111850689	chr12:123928783-123928784	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548229827	chr12:123928817-123928818	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123921800-123928600	Weak transcription	HepG2	liver
2	chr12:123921800-123928800	Weak transcription	Right Atrium	heart
3	chr12:123921800-123929600	Weak transcription	Spleen	Spleen
4	chr12:123921800-123930200	Weak transcription	Pancreas	Pancrea
5	chr12:123921800-123930400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:123922400-123927400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:123922400-123928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:123922600-123928400	Weak transcription	Lung	lung
9	chr12:123922600-123929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:123926200-123929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:123926200-123932800	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:123926200-123933000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:123926400-123928200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:123926600-123930200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:123926800-123928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123927200-123927600	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:123927200-123927800	Enhancers	Primary B cells from cord blood	blood
18	chr12:123927200-123927800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:123927200-123929400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:123927400-123928000	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:123927400-123929000	Weak transcription	Fetal Lung	lung
22	chr12:123927600-123929000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123927600-123930200	Enhancers	GM12878-XiMat	blood
24	chr12:123927800-123928600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:123927800-123929200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:123928000-123928400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:123928000-123928400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123928200-123928600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:123928400-123928600	Enhancers	Brain Substantia Nigra	brain
30	chr12:123928400-123929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:123928400-123929600	Enhancers	Lung	lung
32	chr12:123928400-123931000	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:123928600-123929600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:123928600-123930200	Enhancers	Hela-S3	cervix
35	chr12:123928600-123930200	Enhancers	HepG2	liver
36	chr12:123928600-123930400	Enhancers	Adipose Nuclei	Adipose
37	chr12:123928600-123930400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:123928600-123931200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:123928800-123929000	Weak transcription	Fetal Kidney	kidney
40	chr12:123928800-123929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:123928800-123929800	Enhancers	NHDF-Ad	bronchial
42	chr12:123928800-123930200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:123928800-123930200	Enhancers	Left Ventricle	heart
44	chr12:123928800-123930400	Enhancers	Osteobl	bone
45	chr12:123928800-123931000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:123928800-123931000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:123928800-123931200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:123928800-123931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:123928800-123931200	Enhancers	Right Atrium	heart
50	chr12:123928800-123931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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