Variant report

Variant	nsv983241
Chromosome Location	chr12:31701617-31712747
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	chr12:31711892..31714332-chr12:31715777..31718020,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563698862	chr12:31701677-31701678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536069143	chr12:31701714-31701715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80187307	chr12:31701720-31701721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534173280	chr12:31701747-31701748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553999006	chr12:31701767-31701768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565877134	chr12:31701832-31701833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574048157	chr12:31701880-31701881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552639094	chr12:31701889-31701890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536849766	chr12:31701898-31701899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115419445	chr12:31701902-31701903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576708833	chr12:31701963-31701964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1879385	chr12:31701988-31701989	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565557492	chr12:31702008-31702009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192751410	chr12:31702047-31702048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1716192	chr12:31702057-31702058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1716191	chr12:31702063-31702064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1716190	chr12:31702065-31702066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1716189	chr12:31702094-31702095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547050426	chr12:31702115-31702116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139810687	chr12:31702156-31702157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78371003	chr12:31702200-31702201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142503463	chr12:31702244-31702245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565455061	chr12:31702250-31702251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558086220	chr12:31702345-31702346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376720758	chr12:31702362-31702363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150939399	chr12:31702415-31702416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116811807	chr12:31702419-31702420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531383813	chr12:31702422-31702423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551412702	chr12:31702446-31702447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537717124	chr12:31702462-31702463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557722449	chr12:31702463-31702464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367661776	chr12:31702464-31702465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571492777	chr12:31702469-31702470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533958530	chr12:31702471-31702472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535817765	chr12:31702497-31702498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547730651	chr12:31702503-31702504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543293952	chr12:31702521-31702522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185017196	chr12:31702551-31702552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189529664	chr12:31702596-31702597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79776150	chr12:31702607-31702608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576745510	chr12:31702656-31702657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539215096	chr12:31702657-31702658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371827663	chr12:31702658-31702659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554122777	chr12:31702682-31702683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559001850	chr12:31702697-31702698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569591028	chr12:31702721-31702722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572658369	chr12:31702766-31702767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539849088	chr12:31702780-31702781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553776265	chr12:31702795-31702796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573290783	chr12:31702808-31702809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31685400-31708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:31689000-31713000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:31694400-31707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:31696200-31701800	Weak transcription	Ovary	ovary
5	chr12:31696200-31722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31700200-31701800	Weak transcription	A549	lung
7	chr12:31701800-31702000	Enhancers	A549	lung
8	chr12:31701800-31702200	Enhancers	Ovary	ovary
9	chr12:31702000-31702200	Weak transcription	A549	lung
10	chr12:31707400-31707800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:31708000-31711200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:31708600-31709400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:31708600-31709600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:31708600-31709600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr12:31708800-31709200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:31708800-31709800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr12:31709000-31709600	Weak transcription	A549	lung
18	chr12:31709200-31709400	ZNF genes & repeats	Aorta	Aorta
19	chr12:31709200-31727600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:31709400-31710000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:31709400-31713000	Weak transcription	Aorta	Aorta
22	chr12:31709400-31722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:31709600-31710000	ZNF genes & repeats	A549	lung
24	chr12:31709600-31713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:31709800-31713200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:31710000-31714600	Weak transcription	A549	lung
27	chr12:31710200-31723800	Weak transcription	Pancreas	Pancrea
28	chr12:31710400-31711400	Enhancers	HepG2	liver
29	chr12:31710800-31711000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr12:31710800-31711000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr12:31710800-31711000	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr12:31710800-31712000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr12:31710800-31712200	Enhancers	NH-A	brain
34	chr12:31710800-31712400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:31710800-31713400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:31711000-31711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:31711000-31711800	Enhancers	Osteobl	bone
38	chr12:31711000-31713400	Weak transcription	Fetal Intestine Small	intestine
39	chr12:31711000-31713600	Weak transcription	Ovary	ovary
40	chr12:31711000-31727400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:31711200-31711400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:31711200-31711600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:31711200-31712200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:31711200-31712200	Enhancers	NHDF-Ad	bronchial
45	chr12:31711200-31712400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:31711400-31712800	Weak transcription	HepG2	liver
47	chr12:31711400-31713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:31711600-31712000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:31711600-31712000	Enhancers	NHLF	lung
50	chr12:31711600-31712200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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