Variant report

Variant	esv32719
Chromosome Location	chr12:31986614-31987199
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	chr12:31744029..31745765-chr12:31984895..31986736,2	K562	blood:

Variant related genes	Relation type
ENSG00000255867	chromatin interactions
ENSG00000170456	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113332894	chr12:31986697-31986698	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533997317	chr12:31986703-31986704	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12825723	chr12:31986709-31986710	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567885010	chr12:31986748-31986749	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112798511	chr12:31986759-31986760	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548736598	chr12:31986761-31986762	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76092414	chr12:31986768-31986769	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537984206	chr12:31986801-31986802	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557898128	chr12:31986827-31986828	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577767980	chr12:31986864-31986865	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77668561	chr12:31986886-31986887	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116347196	chr12:31986961-31986962	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573888006	chr12:31986981-31986982	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190332478	chr12:31987016-31987017	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs578037211	chr12:31987029-31987030	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562789582	chr12:31987047-31987048	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111425839	chr12:31987077-31987078	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141780161	chr12:31987085-31987086	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs146020758	chr12:31987127-31987128	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181142045	chr12:31987189-31987190	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527751026	chr12:31987192-31987193	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31983400-31986800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:31984000-31986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:31984200-31986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:31984200-31987000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:31984200-31990800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:31984400-31987000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:31984600-31986800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:31984600-31988400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:31985200-31987600	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:31985400-31986800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:31985600-31986800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr12:31985600-31988400	ZNF genes & repeats	GM12878-XiMat	blood
13	chr12:31985600-31988400	ZNF genes & repeats	K562	blood
14	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
15	chr12:31986000-31986800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr12:31986200-31988000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:31986200-31988000	Weak transcription	Spleen	Spleen
18	chr12:31986400-31987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:31986400-31987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31986400-31987200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:31986400-31987800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:31986400-31990000	Enhancers	Primary B cells from cord blood	blood
23	chr12:31986600-31987400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:31986600-31987800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:31986600-31988000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:31986600-31988200	Weak transcription	A549	lung
27	chr12:31986600-31989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:31986800-31987800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:31986800-31987800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:31986800-31988000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:31986800-31988000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:31986800-31988600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr12:31986800-31988600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:31987000-31987400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:31987000-31988000	Weak transcription	Primary T cells fromperipheralblood	blood

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