Variant report

Variant	nsv557728
Chromosome Location	chr12:21341096-21382342
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
2	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
3	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
4	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
5	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
6	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
7	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
8	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
9	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
10	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
11	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:

No data

Extended variants
information (count: 1780 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045834	chr12:21341096-21341097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148718877	chr12:21341097-21341098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538766179	chr12:21341098-21341099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71446756	chr12:21341140-21341141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569376358	chr12:21341147-21341148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71446757	chr12:21341150-21341151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113792237	chr12:21341211-21341212	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35933705	chr12:21341295-21341296	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554949778	chr12:21341298-21341299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575237658	chr12:21341319-21341320	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189237587	chr12:21341343-21341344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56185629	chr12:21341356-21341357	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368325087	chr12:21341379-21341380	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12319834	chr12:21341481-21341482	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544286170	chr12:21341490-21341491	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147551650	chr12:21341511-21341512	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193079921	chr12:21341555-21341556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576171566	chr12:21341557-21341558	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11522782	chr12:21341568-21341569	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377207649	chr12:21341596-21341597	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371266682	chr12:21341606-21341607	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368365708	chr12:21341612-21341613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370927750	chr12:21341617-21341618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372331939	chr12:21341618-21341619	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375326940	chr12:21341621-21341622	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560467395	chr12:21341636-21341637	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527620948	chr12:21341657-21341658	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550983246	chr12:21341686-21341687	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373623633	chr12:21341687-21341688	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573103102	chr12:21341773-21341774	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369319366	chr12:21341804-21341805	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573613274	chr12:21341845-21341846	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78472991	chr12:21341873-21341874	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78139943	chr12:21341874-21341875	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560121183	chr12:21341938-21341939	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140650049	chr12:21342004-21342005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185412436	chr12:21342021-21342022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114631892	chr12:21342028-21342029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189899459	chr12:21342113-21342114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540820310	chr12:21342120-21342121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532397789	chr12:21342126-21342127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548845914	chr12:21342135-21342136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568758392	chr12:21342144-21342145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201809288	chr12:21342151-21342152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192043587	chr12:21342171-21342172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145774720	chr12:21342249-21342250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570483459	chr12:21342271-21342272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539484195	chr12:21342289-21342290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184228778	chr12:21342292-21342293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576135570	chr12:21342340-21342341	Weak 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21340400-21341200	Weak transcription	Liver	Liver
2	chr12:21341200-21342000	Strong transcription	Liver	Liver
3	chr12:21342000-21345800	Weak transcription	Liver	Liver
4	chr12:21345800-21361800	Strong transcription	Liver	Liver
5	chr12:21350800-21351000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:21350800-21351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:21350800-21351400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:21350800-21351400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:21350800-21351400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:21351000-21360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:21361800-21367800	Weak transcription	Liver	Liver
12	chr12:21367400-21368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:21367400-21368600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:21367400-21368600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:21367400-21369000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:21367600-21368000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:21367600-21368800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:21367600-21368800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:21367600-21368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:21367800-21370800	Strong transcription	Liver	Liver
21	chr12:21368600-21368800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:21368800-21369000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:21370800-21375400	Weak transcription	Liver	Liver
24	chr12:21371000-21371200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:21372400-21375200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:21372800-21373800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:21375400-21386800	Strong transcription	Liver	Liver

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