Variant report

Variant	nsv1039951
Chromosome Location	chr12:20880417-20941238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20886731..20889299-chr12:20891417..20893433,2	K562	blood:
2	chr12:20886731..20889299-chr12:20891417..20893433,2	K562	blood:

Extended variants
information (count: 2087 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2087 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575825830	chr12:20880425-20880426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201274372	chr12:20880467-20880468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188695194	chr12:20880483-20880484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180856656	chr12:20880529-20880530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181113306	chr12:20880530-20880531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546505066	chr12:20880568-20880569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563082516	chr12:20880589-20880590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145658190	chr12:20880595-20880596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7978316	chr12:20880605-20880606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542012262	chr12:20880620-20880621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562319483	chr12:20880645-20880646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527754193	chr12:20880661-20880662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547511026	chr12:20880668-20880669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570494697	chr12:20880672-20880673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533191295	chr12:20880681-20880682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552049685	chr12:20880733-20880734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373760456	chr12:20880744-20880745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561514400	chr12:20880784-20880785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368697058	chr12:20880836-20880837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538151022	chr12:20880877-20880878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540256608	chr12:20880911-20880912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74889944	chr12:20880915-20880916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73069303	chr12:20880938-20880939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184534486	chr12:20880939-20880940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542586305	chr12:20880954-20880955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189058921	chr12:20880977-20880978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546393728	chr12:20880987-20880988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111764003	chr12:20880988-20880989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553944322	chr12:20881017-20881018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140010881	chr12:20881073-20881074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77305841	chr12:20881116-20881117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180790950	chr12:20881124-20881125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576622050	chr12:20881169-20881170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558362725	chr12:20881181-20881182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35645001	chr12:20881190-20881191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398018749	chr12:20881192-20881193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12815336	chr12:20884800-20884801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575576132	chr12:20884802-20884803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386760997	chr12:20884810-20884811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs66764923	chr12:20884811-20884812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374525650	chr12:20884825-20884826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187400489	chr12:20884840-20884841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7139248	chr12:20884864-20884865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112782714	chr12:20884868-20884869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144172480	chr12:20884882-20884883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191850985	chr12:20884886-20884887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534009541	chr12:20884914-20884915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572572269	chr12:20884918-20884919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184876375	chr12:20884945-20884946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189783360	chr12:20884954-20884955	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20860000-20881200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:20884800-20885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:20885400-20885800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:20885800-20886600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:20892600-20892800	ZNF genes & repeats	Aorta	Aorta
6	chr12:20892600-20892800	Enhancers	Pancreas	Pancrea
7	chr12:20892800-20922200	Weak transcription	Aorta	Aorta
8	chr12:20902200-20905600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:20903200-20903800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:20903600-20903800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:20903600-20904200	Enhancers	Brain Germinal Matrix	brain
12	chr12:20903800-20904800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:20904400-20904600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:20904800-20905000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:20909800-20910200	Enhancers	HepG2	liver
16	chr12:20913200-20917000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:20913600-20915800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:20914400-20915800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:20916600-20917400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:20917000-20922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:20917400-20921800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:20919000-20919200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:20919200-20922200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:20920600-20921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:20921000-20921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:20921000-20921600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:20921400-20922400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:20921600-20922400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr12:20921800-20922200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:20921800-20922200	Weak transcription	Adipose Nuclei	Adipose
31	chr12:20921800-20922400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr12:20922000-20922400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr12:20922200-20922400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr12:20922200-20922400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr12:20922200-20922400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:20922200-20922400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:20922200-20922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:20922200-20922400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:20922200-20922400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:20922200-20922400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr12:20922200-20922400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr12:20922200-20922400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:20922200-20922400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:20922200-20922400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:20922200-20922400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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