Variant report

Variant	nsv898883
Chromosome Location	chr12:21294293-21450917
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
2	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
3	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
4	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
5	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
6	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
7	chr12:21449448..21450348-chr12:21590238..21590905,2	MCF-7	breast:
8	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
9	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
10	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
11	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
12	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
13	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
14	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
15	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
16	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
17	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
18	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
19	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 6137 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:6137 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2010668	chr12:21294293-21294294	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550371797	chr12:21294305-21294306	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570206106	chr12:21294315-21294316	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529598947	chr12:21294322-21294323	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11045784	chr12:21294329-21294330	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547045124	chr12:21294407-21294408	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373658115	chr12:21294484-21294485	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201251518	chr12:21294495-21294496	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180888034	chr12:21294506-21294507	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185905373	chr12:21294509-21294510	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11557087	chr12:21294536-21294537	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113635866	chr12:21294538-21294539	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376829525	chr12:21294563-21294564	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142087529	chr12:21294574-21294575	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190581845	chr12:21294587-21294588	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571639279	chr12:21294593-21294594	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112297015	chr12:21294655-21294656	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182369743	chr12:21294661-21294662	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74403531	chr12:21294674-21294675	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79400224	chr12:21294702-21294703	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542512234	chr12:21294708-21294709	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73244856	chr12:21294710-21294711	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74474044	chr12:21294760-21294761	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149689886	chr12:21294784-21294785	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4149021	chr12:21294785-21294786	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12812795	chr12:21294795-21294796	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78140527	chr12:21294799-21294800	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75924117	chr12:21294800-21294801	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529508870	chr12:21294809-21294810	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112377005	chr12:21294813-21294814	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549684623	chr12:21294831-21294832	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560105625	chr12:21294833-21294834	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12303784	chr12:21294840-21294841	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373156227	chr12:21294845-21294846	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112828745	chr12:21294860-21294861	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186011720	chr12:21294901-21294902	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144500481	chr12:21294902-21294903	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112657203	chr12:21294920-21294921	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545205179	chr12:21294923-21294924	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564891975	chr12:21294940-21294941	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75478846	chr12:21294993-21294994	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578052101	chr12:21295000-21295001	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201192922	chr12:21295003-21295004	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114213427	chr12:21295004-21295005	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4149093	chr12:21295005-21295006	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398076474	chr12:21295014-21295015	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397801439	chr12:21295015-21295016	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202166020	chr12:21295016-21295017	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536075115	chr12:21295031-21295032	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552811839	chr12:21295060-21295061	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20950786	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21293800-21296600	Genic enhancers	Liver	Liver
2	chr12:21296600-21297800	Strong transcription	Liver	Liver
3	chr12:21297800-21298200	Genic enhancers	Liver	Liver
4	chr12:21298200-21298400	Weak transcription	Liver	Liver
5	chr12:21298400-21298600	Enhancers	Liver	Liver
6	chr12:21298600-21299000	Weak transcription	Liver	Liver
7	chr12:21299000-21299600	Enhancers	Liver	Liver
8	chr12:21299600-21302400	Weak transcription	Liver	Liver
9	chr12:21302400-21303000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:21302400-21303400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:21302400-21306600	Enhancers	Liver	Liver
12	chr12:21302600-21303400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:21302600-21303400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:21302600-21303400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:21306600-21307000	Weak transcription	Liver	Liver
16	chr12:21307000-21308400	Enhancers	Liver	Liver
17	chr12:21308400-21309000	Flanking Active TSS	Liver	Liver
18	chr12:21308600-21309000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:21308600-21309000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:21309000-21310400	Enhancers	Liver	Liver
21	chr12:21310400-21316600	Weak transcription	Liver	Liver
22	chr12:21316600-21317000	Enhancers	Liver	Liver
23	chr12:21317000-21321000	Weak transcription	Liver	Liver
24	chr12:21318000-21318400	Enhancers	Adipose Nuclei	Adipose
25	chr12:21321000-21321400	Genic enhancers	Liver	Liver
26	chr12:21321400-21324200	Enhancers	Liver	Liver
27	chr12:21324000-21324800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:21324000-21326200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:21324200-21326000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:21324200-21326800	Weak transcription	Liver	Liver
31	chr12:21324400-21325800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:21324600-21325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:21324600-21325800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:21324600-21326200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:21324800-21325800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:21325400-21325600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:21326800-21336800	Strong transcription	Liver	Liver
38	chr12:21335000-21336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:21335800-21336000	Enhancers	NH-A	brain
40	chr12:21336000-21337000	Weak transcription	NH-A	brain
41	chr12:21336000-21337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:21336200-21337200	Enhancers	A549	lung
43	chr12:21336600-21337200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:21336600-21337200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:21336800-21339000	Weak transcription	Liver	Liver
46	chr12:21337000-21337400	Enhancers	NH-A	brain
47	chr12:21337200-21338400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:21338400-21339200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:21338600-21338800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:21339000-21340400	Strong transcription	Liver	Liver

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