Variant report

Variant	nsv521441
Chromosome Location	chr12:32194375-32197877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32185942..32189585-chr12:32195326..32198101,3	K562	blood:
2	chr12:32185942..32188780-chr12:32195326..32198101,2	K562	blood:
3	chr12:32193881..32196557-chr12:32221966..32223576,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2594034	chr12:32194375-32194376	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549303997	chr12:32194380-32194381	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2630605	chr12:32194411-32194412	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368433741	chr12:32194431-32194432	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75957334	chr12:32194443-32194444	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77678851	chr12:32194459-32194460	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539373605	chr12:32194495-32194496	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552716973	chr12:32194500-32194501	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183780031	chr12:32194516-32194517	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1716954	chr12:32194548-32194549	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543857422	chr12:32194600-32194601	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573798873	chr12:32194672-32194673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188787206	chr12:32194673-32194674	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544426184	chr12:32194714-32194715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1716953	chr12:32194721-32194722	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533285986	chr12:32194749-32194750	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540544773	chr12:32194772-32194773	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs151129057	chr12:32194773-32194774	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532411749	chr12:32194776-32194777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540584201	chr12:32194787-32194788	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112156041	chr12:32194825-32194826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12816530	chr12:32194830-32194831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529279942	chr12:32194850-32194851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192951107	chr12:32194882-32194883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12817843	chr12:32194951-32194952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12817848	chr12:32194961-32194962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563008408	chr12:32194963-32194964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368043108	chr12:32194969-32194970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182870469	chr12:32194983-32194984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12817862	chr12:32194986-32194987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551686818	chr12:32194989-32194990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570499463	chr12:32194992-32194993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545468198	chr12:32195015-32195016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552407289	chr12:32195043-32195044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146515102	chr12:32195102-32195103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553059596	chr12:32195148-32195149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547898211	chr12:32195158-32195159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141075160	chr12:32195164-32195165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371825968	chr12:32195178-32195179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535482855	chr12:32195211-32195212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374777262	chr12:32195229-32195230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527950207	chr12:32195259-32195260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187223235	chr12:32195284-32195285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12299689	chr12:32195292-32195293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368900319	chr12:32195329-32195330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557680409	chr12:32195344-32195345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549654577	chr12:32195377-32195378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372623114	chr12:32195381-32195382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577799947	chr12:32195394-32195395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35819292	chr12:32195400-32195401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
2	chr12:32190200-32195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:32192600-32195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:32193400-32196200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:32193600-32194600	Enhancers	Ovary	ovary
6	chr12:32193600-32195000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:32193800-32194800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:32193800-32194800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:32193800-32195000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:32193800-32196400	Weak transcription	Fetal Lung	lung
11	chr12:32193800-32196600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:32194600-32196600	Weak transcription	Ovary	ovary
13	chr12:32194800-32195400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr12:32194800-32195400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:32194800-32199200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:32195000-32195400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:32195000-32195600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr12:32195000-32195600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr12:32195000-32195800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:32195200-32204600	Weak transcription	Right Atrium	heart
21	chr12:32196200-32196600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:32196200-32197200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr12:32196200-32197600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:32196400-32197000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32196400-32197000	ZNF genes & repeats	Fetal Lung	lung
26	chr12:32196400-32197000	ZNF genes & repeats	Stomach Mucosa	stomach
27	chr12:32196400-32197200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr12:32196400-32197400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:32196600-32196800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:32196600-32197400	ZNF genes & repeats	Ovary	ovary
31	chr12:32196800-32197200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:32196800-32197200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr12:32197200-32197400	Weak transcription	Stomach Mucosa	stomach
34	chr12:32197200-32197800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:32197400-32201800	Weak transcription	Ovary	ovary
36	chr12:32197800-32198800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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