Variant report

Variant	nsv898888
Chromosome Location	chr12:21355537-21426087
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
2	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
3	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
4	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
5	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
6	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
7	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
8	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
9	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
10	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:

No data

Extended variants
information (count: 2589 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045859	chr12:21355537-21355538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61176925	chr12:21355561-21355562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555864085	chr12:21355571-21355572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143266211	chr12:21355578-21355579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56387224	chr12:21355583-21355584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534931824	chr12:21355585-21355586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139049237	chr12:21355597-21355598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142965323	chr12:21355598-21355599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139797371	chr12:21355608-21355609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141779296	chr12:21355611-21355612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150573622	chr12:21355616-21355617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76647672	chr12:21355629-21355630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376419023	chr12:21355637-21355638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71581989	chr12:21355648-21355649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542966371	chr12:21355694-21355695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527597339	chr12:21355724-21355725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75161672	chr12:21355729-21355730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563155902	chr12:21355748-21355749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573643639	chr12:21355752-21355753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572700120	chr12:21355788-21355789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144847283	chr12:21355791-21355792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559430423	chr12:21355870-21355871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76076366	chr12:21355938-21355939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551644942	chr12:21355946-21355947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565137029	chr12:21356009-21356010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530831645	chr12:21356018-21356019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532944877	chr12:21356031-21356032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550171105	chr12:21356043-21356044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569965981	chr12:21356052-21356053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533094271	chr12:21356061-21356062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535869016	chr12:21356080-21356081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549206377	chr12:21356146-21356147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570213073	chr12:21356164-21356165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115154901	chr12:21356258-21356259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534848244	chr12:21356355-21356356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80316721	chr12:21356377-21356378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577887649	chr12:21356381-21356382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537360607	chr12:21356412-21356413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569706112	chr12:21356526-21356527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138770742	chr12:21356531-21356532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573537675	chr12:21356561-21356562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542658196	chr12:21356576-21356577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12318652	chr12:21356626-21356627	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572986226	chr12:21356712-21356713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143214173	chr12:21356723-21356724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117863166	chr12:21356736-21356737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373376411	chr12:21356763-21356764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190558189	chr12:21356793-21356794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556002534	chr12:21356802-21356803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530791953	chr12:21356865-21356866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:56 , 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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