Variant report

Variant	esv2570297
Chromosome Location	chr12:11310250-11311748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:11311644-11311853	K562	blood:	n/a	n/a
2	MAFF	chr12:11311730-11311926	K562	blood:	n/a	n/a
3	POLR2A	chr12:11310309-11310424	HepG2	liver:	n/a	n/a
4	ZNF384	chr12:11310349-11310443	GM12878	blood:	n/a	n/a
5	ZNF384	chr12:11311665-11312005	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11304231..11306994-chr12:11309060..11311712,2	K562	blood:
2	chr12:11304563..11306600-chr12:11308675..11311422,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R30-1	chr12:11311384-11312293	NONHSAT026921

No data

Variant related genes	Relation type
RNU6-676P	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3906996	chr12:11310295-11310296	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145876636	chr12:11310323-11310324	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569745632	chr12:11310350-11310351	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148919313	chr12:11310365-11310366	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375475907	chr12:11310422-11310423	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563151916	chr12:11310430-11310431	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200044550	chr12:11310433-11310434	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532141837	chr12:11310434-11310435	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552327962	chr12:11310466-11310467	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188756779	chr12:11310478-11310479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528181212	chr12:11310555-11310556	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117210716	chr12:11310564-11310565	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117236999	chr12:11310577-11310578	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536956885	chr12:11310612-11310613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4275704	chr12:11310633-11310634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556863469	chr12:11310643-11310644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191991533	chr12:11310647-11310648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143646310	chr12:11310651-11310652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs559089993	chr12:11310652-11310653	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572485261	chr12:11310673-11310674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541511008	chr12:11310730-11310731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554545791	chr12:11310738-11310739	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182977957	chr12:11310769-11310770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543327855	chr12:11310783-11310784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187392614	chr12:11310799-11310800	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138168542	chr12:11310810-11310811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191843895	chr12:11310828-11310829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376902256	chr12:11310841-11310842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548914509	chr12:11310906-11310907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368344977	chr12:11310907-11310908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545720925	chr12:11310917-11310918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565931734	chr12:11310938-11310939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559497800	chr12:11310946-11310947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534936050	chr12:11310991-11310992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148095099	chr12:11311033-11311034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548229096	chr12:11311058-11311059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183977688	chr12:11311101-11311102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373146833	chr12:11311126-11311127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7298947	chr12:11311159-11311160	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs187893475	chr12:11311171-11311172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570394643	chr12:11311184-11311185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192315077	chr12:11311193-11311194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558934116	chr12:11311211-11311212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566219548	chr12:11311260-11311261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141298222	chr12:11311262-11311263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145078248	chr12:11311287-11311288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202116777	chr12:11311336-11311337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199958477	chr12:11311337-11311338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201039969	chr12:11311338-11311339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7310047	chr12:11311520-11311521	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	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	chr12:11262200-11314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:11262800-11318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:11268600-11312600	Weak transcription	Hela-S3	cervix
4	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
5	chr12:11273800-11321800	Weak transcription	Osteobl	bone
6	chr12:11276800-11311800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:11279400-11311800	Weak transcription	HepG2	liver
8	chr12:11282400-11318200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:11286600-11318600	Weak transcription	Ovary	ovary
10	chr12:11287600-11312600	Weak transcription	NHDF-Ad	bronchial
11	chr12:11289000-11312000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11291600-11321800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:11292400-11312600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:11294600-11313400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:11295600-11313400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:11295800-11318400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:11297400-11318400	Weak transcription	Thymus	Thymus
18	chr12:11297600-11315200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:11297800-11318400	Weak transcription	Aorta	Aorta
20	chr12:11297800-11318400	Weak transcription	Lung	lung
21	chr12:11297800-11321600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:11298000-11313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11301000-11313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:11301000-11318200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:11301600-11316600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:11301600-11318200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:11301600-11323200	Weak transcription	Colonic Mucosa	Colon
28	chr12:11302000-11311800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:11302000-11317800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:11302000-11321200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:11302200-11318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:11302600-11323200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:11302800-11312000	Weak transcription	Right Ventricle	heart
34	chr12:11303800-11311600	Weak transcription	K562	blood
35	chr12:11303800-11313600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:11303800-11318200	Weak transcription	Placenta	Placenta
37	chr12:11303800-11318400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:11303800-11323600	Weak transcription	Esophagus	oesophagus
39	chr12:11304000-11311600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:11304000-11311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:11304000-11313000	Weak transcription	Fetal Stomach	stomach
42	chr12:11304000-11313400	Weak transcription	Fetal Thymus	thymus
43	chr12:11304000-11313600	Weak transcription	Left Ventricle	heart
44	chr12:11304000-11316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:11304000-11318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:11304000-11318400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:11304000-11321200	Weak transcription	Fetal Brain Male	brain
48	chr12:11304000-11322600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:11304000-11323200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:11304000-11323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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