Variant report

Variant	nsv898803
Chromosome Location	chr12:11757867-11794636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:11743464..11745088-chr12:11772818..11775171,2	MCF-7	breast:
2	chr12:11793752..11796645-chr12:11797362..11799815,2	K562	blood:
3	chr12:11790137..11796733-chr12:11799991..11803507,6	K562	blood:
4	chr12:11708219..11711101-chr12:11792200..11794914,2	MCF-7	breast:
5	chr12:11789716..11791552-chr12:11800441..11803073,2	MCF-7	breast:
6	chr12:11783936..11786293-chr12:11800798..11803656,2	MCF-7	breast:
7	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:
8	chr12:11786758..11788608-chr12:11789783..11791585,2	K562	blood:
9	chr12:11787806..11789368-chr12:11800871..11802843,2	MCF-7	breast:
10	chr12:11786758..11788608-chr12:11789783..11791585,2	K562	blood:
11	chr12:11779951..11782126-chr12:11801049..11803377,2	MCF-7	breast:
12	chr12:11776574..11778214-chr12:11782212..11784019,2	K562	blood:
13	chr12:11775387..11777781-chr12:11801742..11803423,2	MCF-7	breast:
14	chr12:11783439..11785151-chr12:11787291..11788805,2	K562	blood:
15	chr12:11781998..11784337-chr12:11802587..11804174,2	MCF-7	breast:
16	chr12:11791371..11795564-chr12:11800913..11803507,5	K562	blood:
17	chr12:11751248..11753473-chr12:11757932..11759599,2	K562	blood:
18	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:
19	chr12:11786072..11788465-chr12:11800287..11802406,2	K562	blood:
20	chr12:11783439..11785151-chr12:11787291..11788805,2	K562	blood:
21	chr12:11776574..11778214-chr12:11782212..11784019,2	K562	blood:
22	chr12:11784813..11787611-chr12:11800177..11801948,2	MCF-7	breast:
23	chr12:11790830..11792844-chr12:11808167..11810511,2	MCF-7	breast:
24	chr12:11734177..11734795-chr12:11775436..11776127,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247157	chromatin interactions
ENSG00000256237	chromatin interactions
ENSG00000139083	chromatin interactions

Extended variants
information (count: 1671 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1671 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10845388	chr12:11757867-11757868	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569217584	chr12:11757883-11757884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561765438	chr12:11757917-11757918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536367108	chr12:11757931-11757932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554693203	chr12:11757933-11757934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565311447	chr12:11757944-11757945	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573109242	chr12:11757991-11757992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186513964	chr12:11758027-11758028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77645277	chr12:11758064-11758065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559033040	chr12:11758075-11758076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577543309	chr12:11758149-11758150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530776161	chr12:11758167-11758168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544712951	chr12:11758202-11758203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139286805	chr12:11758206-11758207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191463423	chr12:11758215-11758216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542753613	chr12:11758230-11758231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544324184	chr12:11758252-11758253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528343988	chr12:11758253-11758254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113827930	chr12:11758264-11758265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147392153	chr12:11758274-11758275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182850126	chr12:11758283-11758284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550670073	chr12:11758287-11758288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139710506	chr12:11758288-11758289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567713224	chr12:11758291-11758292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553735503	chr12:11758313-11758314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374046361	chr12:11758320-11758321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60761897	chr12:11758350-11758351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549240012	chr12:11758360-11758361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566720744	chr12:11758387-11758388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145289031	chr12:11758394-11758395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147648984	chr12:11758409-11758410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571029773	chr12:11758410-11758411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538535640	chr12:11758413-11758414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565876936	chr12:11758427-11758428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556643142	chr12:11758431-11758432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575351412	chr12:11758432-11758433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542743355	chr12:11758433-11758434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375947942	chr12:11758471-11758472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554735597	chr12:11758478-11758479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58177076	chr12:11758495-11758496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573061685	chr12:11758514-11758515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148696513	chr12:11758555-11758556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142042976	chr12:11758572-11758573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532256970	chr12:11758576-11758577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544503025	chr12:11758599-11758600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562531639	chr12:11758645-11758646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534944189	chr12:11758674-11758675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557657133	chr12:11758711-11758712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574422854	chr12:11758732-11758733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372760944	chr12:11758757-11758758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11730800-11762200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:11746800-11762200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:11754200-11758200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:11755600-11760200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:11756000-11768400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:11756200-11760200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:11756600-11758000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:11756800-11758200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:11756800-11758800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:11757000-11759600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:11757000-11761400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:11757200-11758000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:11757200-11758200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:11757400-11758200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:11757600-11758200	Enhancers	GM12878-XiMat	blood
16	chr12:11757800-11758000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:11757800-11758200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:11758000-11758200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:11758000-11760000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:11758200-11759600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:11758200-11760200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:11758200-11760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:11758200-11760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:11758200-11760200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:11758200-11760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:11758800-11760000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:11759200-11761400	Enhancers	Fetal Intestine Small	intestine
28	chr12:11759400-11760400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:11759400-11760800	Enhancers	Liver	Liver
30	chr12:11759400-11761000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:11759400-11761400	Enhancers	Fetal Intestine Large	intestine
32	chr12:11759600-11759800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:11759600-11760200	Enhancers	HepG2	liver
34	chr12:11759600-11760400	Enhancers	Stomach Mucosa	stomach
35	chr12:11759600-11762200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:11759800-11760200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:11759800-11760400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:11760000-11760200	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:11760000-11760200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:11760000-11760200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:11760000-11760800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:11760000-11761000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:11760000-11761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:11760000-11761200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:11760000-11761200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:11760000-11761200	Enhancers	Adipose Nuclei	Adipose
47	chr12:11760000-11761400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:11760200-11760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:11760200-11760400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:11760200-11760400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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