Variant report

Variant	esv3338460
Chromosome Location	chr12:105428847-105431695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:105431148-105431398	GM12878	blood:	n/a	chr12:105431340-105431350 chr12:105431344-105431354
2	BATF	chr12:105431147-105431425	GM12878	blood:	n/a	chr12:105431340-105431350 chr12:105431344-105431354
3	CTCF	chr12:105428931-105428981	GM10248	blood:	n/a	n/a
4	E2F4	chr12:105431308-105431388	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:105431181-105431500	MCF10A-Er-Src	breast:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431341-105431352 chr12:105431343-105431352
6	FOS	chr12:105431181-105431509	MCF10A-Er-Src	breast:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431341-105431352 chr12:105431343-105431352
7	FOS	chr12:105431172-105431515	MCF10A-Er-Src	breast:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431341-105431352 chr12:105431343-105431352
8	FOS	chr12:105431071-105431527	HUVEC	blood vessel:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431341-105431352 chr12:105431343-105431352
9	FOS	chr12:105431156-105431511	MCF10A-Er-Src	breast:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431341-105431352 chr12:105431343-105431352
10	FOSL1	chr12:105431081-105431559	HCT-116	colon:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431343-105431352
11	JUN	chr12:105431076-105431307	K562	blood:	n/a	n/a
12	JUND	chr12:105431044-105431600	HCT-116	colon:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431343-105431352
13	JUND	chr12:105431168-105431506	Hela-S3	cervix:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431343-105431352
14	JUND	chr12:105431047-105431563	HCT-116	colon:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431343-105431352
15	JUND	chr12:105430976-105431596	SK-N-SH	brain:	n/a	chr12:105431343-105431350 chr12:105431343-105431351 chr12:105431342-105431351 chr12:105431343-105431352
16	NFIC	chr12:105430950-105431500	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:105429148-105429184	K562	blood:	n/a	n/a
18	STAT3	chr12:105431411-105431482	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF7L2	chr12:105431265-105431434	Hela-S3	cervix:	n/a	chr12:105431314-105431328

Variant related genes	Relation type
ALDH1L2	TF binding region

Extended variants
information (count: 174 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137973159	chr12:105428867-105428868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11112322	chr12:105428875-105428876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375912628	chr12:105428887-105428888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10778363	chr12:105428893-105428894	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533044251	chr12:105428908-105428909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549420423	chr12:105428912-105428913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566340046	chr12:105428951-105428952	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535343127	chr12:105429045-105429046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186237964	chr12:105429055-105429056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12581510	chr12:105429057-105429058	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149516594	chr12:105429123-105429124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12581542	chr12:105429141-105429142	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556767576	chr12:105429148-105429149	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191907639	chr12:105429172-105429173	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542191661	chr12:105429179-105429180	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184158067	chr12:105429219-105429220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532809663	chr12:105429293-105429294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73387265	chr12:105429308-105429309	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544978959	chr12:105429347-105429348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185978182	chr12:105429377-105429378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530601445	chr12:105429401-105429402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78896041	chr12:105429414-105429415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190695196	chr12:105429504-105429505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529422424	chr12:105429505-105429506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530767405	chr12:105429518-105429519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182528629	chr12:105429533-105429534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73387268	chr12:105429538-105429539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112229632	chr12:105429601-105429602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371652222	chr12:105429604-105429605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201619547	chr12:105429612-105429613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569473287	chr12:105429613-105429614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7298425	chr12:105429615-105429616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370920980	chr12:105429616-105429617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7298427	chr12:105429617-105429618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529431233	chr12:105429645-105429646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369417499	chr12:105429647-105429648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555543210	chr12:105429655-105429656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551777002	chr12:105429661-105429662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200821625	chr12:105429677-105429678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117773549	chr12:105429679-105429680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552678157	chr12:105429682-105429683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199968455	chr12:105429690-105429691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72541173	chr12:105429691-105429692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565928966	chr12:105429702-105429703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569966806	chr12:105429709-105429710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373799748	chr12:105429714-105429715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377597994	chr12:105429716-105429717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376907857	chr12:105429722-105429723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369184452	chr12:105429725-105429726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12828369	chr12:105429737-105429738	Weak transcription Strong transcription	n/a	n/a	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
2	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:105407800-105430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
10	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:105410800-105430600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:105410800-105446400	Weak transcription	K562	blood
13	chr12:105412400-105440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:105413000-105441800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:105413000-105445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:105413200-105430600	Weak transcription	Primary T cells from cord blood	blood
18	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:105413400-105430800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:105414800-105447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:105415000-105440400	Weak transcription	Gastric	stomach
23	chr12:105418600-105441000	Weak transcription	Pancreas	Pancrea
24	chr12:105419400-105434400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:105420200-105429400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:105420200-105441000	Weak transcription	Fetal Brain Male	brain
28	chr12:105420400-105434600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:105420400-105435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:105420400-105440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:105420400-105448600	Weak transcription	Ovary	ovary
32	chr12:105420600-105435200	Strong transcription	Osteobl	bone
33	chr12:105420600-105442000	Weak transcription	Fetal Lung	lung
34	chr12:105420600-105442000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:105420600-105447000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:105420800-105434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:105420800-105442000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:105421400-105432600	Strong transcription	HSMMtube	muscle
39	chr12:105421400-105433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:105422600-105430400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:105422600-105442800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:105423200-105429200	Weak transcription	Psoas Muscle	Psoas
43	chr12:105423200-105459400	Weak transcription	Lung	lung
44	chr12:105423400-105431200	Strong transcription	HSMM	muscle
45	chr12:105423600-105430400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:105423600-105440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:105424000-105431200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:105424200-105430400	Weak transcription	NH-A	brain
49	chr12:105424200-105430600	Weak transcription	NHDF-Ad	bronchial
50	chr12:105425000-105432400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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