Variant report

Variant	nsv557729
Chromosome Location	chr12:21352541-21378021
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1104 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12317268	chr12:21352541-21352542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs12310977	chr12:21352555-21352556	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200426413	chr12:21352572-21352573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3919879	chr12:21352596-21352597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192111122	chr12:21352608-21352609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575933754	chr12:21352654-21352655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11045858	chr12:21352671-21352672	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546849388	chr12:21352723-21352724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142175777	chr12:21352724-21352725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3060579	chr12:21352745-21352746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183639046	chr12:21352772-21352773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560752764	chr12:21352788-21352789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553548462	chr12:21352810-21352811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532787240	chr12:21352828-21352829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552880929	chr12:21352838-21352839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12317451	chr12:21352861-21352862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11610616	chr12:21352867-21352868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140130661	chr12:21352891-21352892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548213784	chr12:21352946-21352947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12304130	chr12:21352955-21352956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533913030	chr12:21353030-21353031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115769884	chr12:21353031-21353032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112673747	chr12:21353038-21353039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555388606	chr12:21353081-21353082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201342296	chr12:21353107-21353108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556036655	chr12:21353159-21353160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575972126	chr12:21353192-21353193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544160130	chr12:21353197-21353198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571967802	chr12:21353216-21353217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534992913	chr12:21353226-21353227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540830100	chr12:21353301-21353302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563934683	chr12:21353314-21353315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12312746	chr12:21353317-21353318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12305699	chr12:21353330-21353331	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560409404	chr12:21353342-21353343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554787528	chr12:21353347-21353348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532748194	chr12:21353360-21353361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377526914	chr12:21353362-21353363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145609093	chr12:21353368-21353369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200611821	chr12:21353413-21353414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151155254	chr12:21353452-21353453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77871475	chr12:21353471-21353472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72559747	chr12:21353478-21353479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113495867	chr12:21353483-21353484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61760243	chr12:21353505-21353506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145167231	chr12:21353506-21353507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146867151	chr12:21353514-21353515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55901008	chr12:21353529-21353530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147750118	chr12:21353547-21353548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140674443	chr12:21353551-21353552	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:19 , 50 per page) page: 1

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

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