Variant report

Variant	esv1010041
Chromosome Location	chr12:105459777-105467603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr12:105463116-105463257	K562	blood:	n/a	n/a
2	EBF1	chr12:105463944-105464144	GM12878	blood:	n/a	chr12:105464051-105464061
3	FOS	chr12:105466377-105466488	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr12:105465014-105465140	HepG2	liver:	n/a	chr12:105465062-105465080
5	MAFF	chr12:105464994-105465183	K562	blood:	n/a	chr12:105465062-105465080
6	MAFK	chr12:105464931-105465142	HepG2	liver:	n/a	chr12:105465064-105465079
7	MAZ	chr12:105463750-105463933	HepG2	liver:	n/a	n/a
8	MXI1	chr12:105461127-105461783	IMR90	lung:	n/a	n/a
9	NFYB	chr12:105463788-105463957	GM12878	blood:	n/a	n/a
10	NFYB	chr12:105467408-105467628	K562	blood:	n/a	n/a
11	POLR2A	chr12:105461401-105461515	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:105460125-105460166	K562	blood:	n/a	n/a
13	POLR2A	chr12:105462832-105463032	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:105467238-105467438	K562	blood:	n/a	n/a
15	POLR2A	chr12:105460518-105460566	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:105467392-105467562	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr12:105466944-105467025	ProgFib	skin:	n/a	n/a
18	POLR2A	chr12:105464932-105465098	MCF10A-Er-Src	breast:	n/a	n/a
19	SPI1	chr12:105466949-105467154	GM12878	blood:	n/a	n/a
20	SPI1	chr12:105466863-105467241	GM12891	blood:	n/a	n/a
21	SPI1	chr12:105466877-105467271	GM12891	blood:	n/a	n/a
22	SPI1	chr12:105466848-105467294	HL-60	blood:	n/a	n/a
23	SPI1	chr12:105466937-105467213	GM12878	blood:	n/a	n/a
24	ZNF384	chr12:105464163-105464349	K562	blood:	n/a	chr12:105464335-105464343

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:105458598..105460587-chr12:105460604..105462776,2	K562	blood:
2	chr12:105464694..105466929-chr12:105467498..105470680,3	K562	blood:
3	chr12:105463484..105466034-chr12:105475844..105478289,2	K562	blood:
4	chr12:105461700..105464366-chr12:105466158..105469236,3	MCF-7	breast:
5	chr12:105467422..105469473-chr12:105483302..105486142,2	K562	blood:
6	chr12:105461590..105464324-chr12:105467653..105469817,3	K562	blood:
7	chr12:105446388..105448614-chr12:105457572..105460217,2	MCF-7	breast:
8	chr12:105462061..105464971-chr12:105467653..105470176,2	K562	blood:
9	chr12:105392063..105394759-chr12:105462525..105464694,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf45-1	chr12:105467543-105467799	ENSG00000257886.1
2	lnc-C12orf45-1	chr12:105466264-105466295	ENSG00000257886.1

No data

Variant related genes	Relation type
ENSG00000257886	TF binding region
ALDH1L2	TF binding region
ENSG00000136010	chromatin interactions
ENSG00000257886	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569022461	chr12:105459811-105459812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531776641	chr12:105459839-105459840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190412722	chr12:105459903-105459904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562391645	chr12:105459925-105459926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182521463	chr12:105459945-105459946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187984055	chr12:105459946-105459947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11836033	chr12:105460006-105460007	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369721515	chr12:105460034-105460035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532880090	chr12:105460101-105460102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144383817	chr12:105460150-105460151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569293435	chr12:105460160-105460161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10778368	chr12:105460165-105460166	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs555212859	chr12:105460192-105460193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565846511	chr12:105460196-105460197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531827169	chr12:105460202-105460203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200585691	chr12:105460311-105460312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193046925	chr12:105460320-105460321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375715869	chr12:105460326-105460327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199627032	chr12:105460343-105460344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535287864	chr12:105460402-105460403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367853066	chr12:105460405-105460406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142004621	chr12:105460406-105460407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146335509	chr12:105460429-105460430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148547886	chr12:105460432-105460433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372087877	chr12:105460443-105460444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142948125	chr12:105460445-105460446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374297669	chr12:105460490-105460491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562325470	chr12:105460733-105460734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7302854	chr12:105460735-105460736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541753513	chr12:105460742-105460743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545240739	chr12:105460744-105460745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564498441	chr12:105460745-105460746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12811259	chr12:105460758-105460759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141143639	chr12:105460850-105460851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569432538	chr12:105460866-105460867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375016827	chr12:105460936-105460937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368098576	chr12:105460943-105460944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371531030	chr12:105460972-105460973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540993776	chr12:105460985-105460986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577606391	chr12:105460993-105460994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11334156	chr12:105460994-105460995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs67332295	chr12:105461008-105461009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112558374	chr12:105461009-105461010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370889320	chr12:105461014-105461015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545424545	chr12:105461022-105461023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114114813	chr12:105461026-105461027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150749956	chr12:105461094-105461095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571322099	chr12:105461116-105461117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537268717	chr12:105461140-105461141	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548333477	chr12:105461169-105461170	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:105431400-105461600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:105441200-105477000	Weak transcription	Gastric	stomach
7	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
8	chr12:105443400-105465000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:105447000-105461600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105447000-105464600	Weak transcription	Left Ventricle	heart
12	chr12:105447000-105468000	Weak transcription	K562	blood
13	chr12:105447000-105468600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:105447200-105462000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:105447200-105466800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:105447200-105477200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:105448200-105461400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:105448800-105459800	Weak transcription	Ovary	ovary
19	chr12:105448800-105461200	Strong transcription	Osteobl	bone
20	chr12:105449400-105476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:105450600-105461400	Strong transcription	HSMMtube	muscle
22	chr12:105450600-105461800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:105450800-105461400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:105450800-105468200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:105451600-105461400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:105452000-105461200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:105452000-105464200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:105452000-105466200	Weak transcription	GM12878-XiMat	blood
29	chr12:105452200-105462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:105453400-105460400	Strong transcription	Fetal Brain Female	brain
31	chr12:105453400-105476800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:105454200-105476600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:105455000-105461400	Weak transcription	Spleen	Spleen
34	chr12:105455600-105465200	Strong transcription	HMEC	breast
35	chr12:105455600-105467800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:105455600-105476400	Weak transcription	Fetal Brain Male	brain
37	chr12:105456000-105477000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:105456400-105475000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:105456600-105463800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:105456600-105475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:105456800-105467400	Weak transcription	Fetal Stomach	stomach
42	chr12:105456800-105471200	Weak transcription	Pancreas	Pancrea
43	chr12:105456800-105476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:105457800-105460400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:105457800-105462200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:105458000-105460800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:105458000-105461200	Strong transcription	NH-A	brain
48	chr12:105458000-105464600	Strong transcription	NHLF	lung
49	chr12:105458200-105460400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:105458200-105460600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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