Variant report

Variant	nsv558338
Chromosome Location	chr12:34808754-34853011
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-chr19:27730625..27733192,2	K562	blood:
2	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
3	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
4	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
5	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
6	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
7	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
8	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:

No data

Extended variants
information (count: 5393 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:5393 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9706027	chr12:34808754-34808755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546944200	chr12:34808768-34808769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568200998	chr12:34808772-34808773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181921371	chr12:34808794-34808795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147113888	chr12:34808832-34808833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570644921	chr12:34808856-34808857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375345571	chr12:34808860-34808861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201235155	chr12:34808882-34808883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201636970	chr12:34808883-34808884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539222517	chr12:34808930-34808931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12099754	chr12:34808975-34808976	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370914696	chr12:34809040-34809041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572799957	chr12:34809050-34809051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568033511	chr12:34809055-34809056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534738811	chr12:34809058-34809059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186334990	chr12:34809063-34809064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535143919	chr12:34809075-34809076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112994355	chr12:34809083-34809084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557016396	chr12:34809088-34809089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs397824035	chr12:34809091-34809092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182292927	chr12:34809118-34809119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563596925	chr12:34809133-34809134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577403669	chr12:34809134-34809135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201522880	chr12:34809138-34809139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553060978	chr12:34809148-34809149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546060073	chr12:34809174-34809175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116263063	chr12:34809215-34809216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185459413	chr12:34809231-34809232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548860254	chr12:34809259-34809260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs144345065	chr12:34809264-34809265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11830074	chr12:34809295-34809296	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191357719	chr12:34809300-34809301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570435087	chr12:34809303-34809304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142041395	chr12:34809304-34809305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545158366	chr12:34809305-34809306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146290495	chr12:34809315-34809316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566292776	chr12:34809316-34809317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535366687	chr12:34809338-34809339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12422781	chr12:34809343-34809344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183313731	chr12:34809417-34809418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574508859	chr12:34809461-34809462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112362214	chr12:34809464-34809465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113014064	chr12:34809479-34809480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557458443	chr12:34809497-34809498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78682054	chr12:34809525-34809526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188195900	chr12:34809537-34809538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77313698	chr12:34809554-34809555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542537972	chr12:34809555-34809556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11519461	chr12:34809568-34809569	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193178073	chr12:34809582-34809583	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:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr12:34812800-34816800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:34825400-34826000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr12:34825600-34826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:34825600-34826000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr12:34830800-34832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:34830800-34832400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr12:34831200-34832000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:34831400-34832200	ZNF genes & repeats	HUVEC	blood vessel
15	chr12:34831600-34833800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34831800-34832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:34831800-34832200	ZNF genes & repeats	K562	blood
20	chr12:34831800-34833200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:34832000-34832200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
22	chr12:34832000-34832200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr12:34832000-34832400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:34832000-34833200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:34832000-34833600	ZNF genes & repeats	NH-A	brain
26	chr12:34832200-34833200	Weak transcription	Fetal Kidney	kidney
27	chr12:34832200-34833200	Weak transcription	HUVEC	blood vessel
28	chr12:34832200-34833200	Weak transcription	K562	blood
29	chr12:34832400-34833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:34832400-34833200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:34832600-34833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:34832600-34833800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:34832800-34833200	Active TSS	Aorta	Aorta
34	chr12:34832800-34833600	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr12:34832800-34834000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr12:34833000-34833800	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr12:34833000-34834200	ZNF genes & repeats	HepG2	liver
38	chr12:34833000-34834800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr12:34833000-34839200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:34833200-34833400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:34833200-34833400	ZNF genes & repeats	Aorta	Aorta
42	chr12:34833200-34833400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:34833200-34833400	Active TSS	Right Atrium	heart
44	chr12:34833200-34833400	Active TSS	NHLF	lung
45	chr12:34833200-34833600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:34833200-34833600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:34833200-34833600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:34833200-34833600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:34833200-34833600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:34833200-34833600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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