Variant report

Variant	nsv558337
Chromosome Location	chr12:34802342-34845175
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
2	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
3	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
4	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
5	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
6	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
7	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
8	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 4237 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:4237 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9668217	chr12:34802342-34802343	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9668218	chr12:34802372-34802373	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377551514	chr12:34802374-34802375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191200013	chr12:34802435-34802436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142450149	chr12:34802444-34802445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146313488	chr12:34802455-34802456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553310987	chr12:34802475-34802476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532748188	chr12:34802480-34802481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573292570	chr12:34802502-34802503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374210102	chr12:34802511-34802512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs56020136	chr12:34802523-34802524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562016198	chr12:34802527-34802528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531134487	chr12:34802534-34802535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs139037567	chr12:34802537-34802538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183408411	chr12:34802562-34802563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187688635	chr12:34802563-34802564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142848962	chr12:34802570-34802571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113026520	chr12:34802588-34802589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111886022	chr12:34802594-34802595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111419709	chr12:34802601-34802602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560108175	chr12:34802616-34802617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs192402905	chr12:34802633-34802634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76264492	chr12:34802637-34802638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574967740	chr12:34802646-34802647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568571835	chr12:34802684-34802685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184744863	chr12:34802713-34802714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549266637	chr12:34802715-34802716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188104915	chr12:34802717-34802718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191987675	chr12:34802719-34802720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77994237	chr12:34802734-34802735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533822612	chr12:34802735-34802736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553750829	chr12:34802769-34802770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548895529	chr12:34802785-34802786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199770387	chr12:34802864-34802865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368277691	chr12:34802865-34802866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535438876	chr12:34802866-34802867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555868120	chr12:34802874-34802875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575803352	chr12:34802876-34802877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544846344	chr12:34802884-34802885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564653032	chr12:34802885-34802886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569937269	chr12:34802910-34802911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569191025	chr12:34802958-34802959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs578191538	chr12:34802984-34802985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540943362	chr12:34803024-34803025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77191928	chr12:34803027-34803028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528892896	chr12:34803040-34803041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537496097	chr12:34803046-34803047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142905383	chr12:34803047-34803048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114186597	chr12:34803065-34803066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs151095589	chr12:34803079-34803080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	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	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34799000-34802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:34799000-34803600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr12:34799000-34805200	ZNF genes & repeats	Liver	Liver
5	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:34801400-34802600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr12:34812800-34816800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:34825400-34826000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr12:34825600-34826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:34825600-34826000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:34830800-34832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:34830800-34832400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr12:34831200-34832000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:34831400-34832200	ZNF genes & repeats	HUVEC	blood vessel
20	chr12:34831600-34833800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr12:34831800-34832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:34831800-34832200	ZNF genes & repeats	K562	blood
25	chr12:34831800-34833200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:34832000-34832200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr12:34832000-34832200	ZNF genes & repeats	Fetal Kidney	kidney
28	chr12:34832000-34832400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:34832000-34833200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:34832000-34833600	ZNF genes & repeats	NH-A	brain
31	chr12:34832200-34833200	Weak transcription	Fetal Kidney	kidney
32	chr12:34832200-34833200	Weak transcription	HUVEC	blood vessel
33	chr12:34832200-34833200	Weak transcription	K562	blood
34	chr12:34832400-34833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:34832400-34833200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:34832600-34833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:34832600-34833800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:34832800-34833200	Active TSS	Aorta	Aorta
39	chr12:34832800-34833600	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr12:34832800-34834000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr12:34833000-34833800	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr12:34833000-34834200	ZNF genes & repeats	HepG2	liver
43	chr12:34833000-34834800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr12:34833000-34839200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:34833200-34833400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:34833200-34833400	ZNF genes & repeats	Aorta	Aorta
47	chr12:34833200-34833400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:34833200-34833400	Active TSS	Right Atrium	heart
49	chr12:34833200-34833400	Active TSS	NHLF	lung
50	chr12:34833200-34833600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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