Variant report

Variant	nsv898886
Chromosome Location	chr12:21354494-21450250
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
2	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
3	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
4	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
5	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
6	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
7	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
8	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
9	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
10	chr12:21449448..21450348-chr12:21590238..21590905,2	MCF-7	breast:
11	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
12	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
13	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 3582 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3582 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1564364	chr12:21354494-21354495	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575728915	chr12:21354541-21354542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540974423	chr12:21354614-21354615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201511225	chr12:21354628-21354629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563754549	chr12:21354684-21354685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373584856	chr12:21354687-21354688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145478781	chr12:21354693-21354694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569457033	chr12:21354706-21354707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188525667	chr12:21354722-21354723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180899540	chr12:21354760-21354761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12314902	chr12:21354797-21354798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534631301	chr12:21354908-21354909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554176952	chr12:21354936-21354937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12307943	chr12:21354938-21354939	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539871090	chr12:21354939-21354940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112993751	chr12:21354973-21354974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7955751	chr12:21355085-21355086	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201483883	chr12:21355098-21355099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61760245	chr12:21355115-21355116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150971745	chr12:21355124-21355125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555686189	chr12:21355129-21355130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572672428	chr12:21355131-21355132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541345804	chr12:21355132-21355133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77076549	chr12:21355167-21355168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185311393	chr12:21355179-21355180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370040161	chr12:21355189-21355190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372346553	chr12:21355232-21355233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398102372	chr12:21355247-21355248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543054301	chr12:21355250-21355251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79661732	chr12:21355290-21355291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528981550	chr12:21355333-21355334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549131037	chr12:21355379-21355380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113460407	chr12:21355396-21355397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528325013	chr12:21355406-21355407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77238699	chr12:21355407-21355408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143895524	chr12:21355424-21355425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373127202	chr12:21355466-21355467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200621156	chr12:21355475-21355476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59113707	chr12:21355489-21355490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537508858	chr12:21355501-21355502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376060151	chr12:21355502-21355503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575299037	chr12:21355511-21355512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199859384	chr12:21355515-21355516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77468276	chr12:21355535-21355536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11045859	chr12:21355537-21355538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61176925	chr12:21355561-21355562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555864085	chr12:21355571-21355572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143266211	chr12:21355578-21355579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56387224	chr12:21355583-21355584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534931824	chr12:21355585-21355586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20950786	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21345800-21361800	Strong transcription	Liver	Liver
2	chr12:21351000-21360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:21361800-21367800	Weak transcription	Liver	Liver
4	chr12:21367400-21368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:21367400-21368600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:21367400-21368600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:21367400-21369000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:21367600-21368000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:21367600-21368800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:21367600-21368800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr12:21367600-21368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:21367800-21370800	Strong transcription	Liver	Liver
13	chr12:21368600-21368800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:21368800-21369000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:21370800-21375400	Weak transcription	Liver	Liver
16	chr12:21371000-21371200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:21372400-21375200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:21372800-21373800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:21375400-21386800	Strong transcription	Liver	Liver
20	chr12:21385200-21385800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:21385400-21385600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:21385800-21397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:21386800-21389200	Weak transcription	Liver	Liver
24	chr12:21389200-21393000	Strong transcription	Liver	Liver
25	chr12:21393000-21395000	ZNF genes & repeats	Liver	Liver
26	chr12:21393200-21393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:21393800-21394400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:21394400-21394600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:21394400-21394600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:21397800-21399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:21398000-21399200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:21398200-21398600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:21399000-21401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:21401400-21402400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:21401800-21402000	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:21402200-21402600	Enhancers	Fetal Heart	heart
37	chr12:21408400-21408600	Enhancers	Liver	Liver
38	chr12:21408600-21411800	Weak transcription	Liver	Liver
39	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:21411800-21412600	Strong transcription	Liver	Liver
41	chr12:21412200-21413000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:21412600-21414800	Weak transcription	Liver	Liver
43	chr12:21414800-21415800	Strong transcription	Liver	Liver
44	chr12:21415800-21420000	Weak transcription	Liver	Liver
45	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:21417000-21429800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:21417200-21425800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:21418200-21421200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:21420000-21421800	Strong transcription	Liver	Liver

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