Variant report

Variant	nsv558344
Chromosome Location	chr12:34827007-34856380
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	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
2	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
3	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
4	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
5	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
6	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
7	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
8	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:

No data

Extended variants
information (count: 5244 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:5244 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11834375	chr12:34827007-34827008	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377299418	chr12:34827017-34827018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149165303	chr12:34827031-34827032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143215932	chr12:34827033-34827034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192893704	chr12:34827034-34827035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201865298	chr12:34827038-34827039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370732832	chr12:34827040-34827041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185449494	chr12:34827056-34827057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148296064	chr12:34827087-34827088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545757017	chr12:34827095-34827096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550615146	chr12:34827135-34827136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs188973067	chr12:34827156-34827157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544775885	chr12:34827168-34827169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551689508	chr12:34827172-34827173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9705544	chr12:34827175-34827176	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375625461	chr12:34827187-34827188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539822766	chr12:34827190-34827191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553064211	chr12:34827201-34827202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566971315	chr12:34827225-34827226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527404309	chr12:34827233-34827234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535562640	chr12:34827241-34827242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555569799	chr12:34827250-34827251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575430931	chr12:34827253-34827254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181794101	chr12:34827260-34827261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558040271	chr12:34827264-34827265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9706144	chr12:34827265-34827266	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567883775	chr12:34827284-34827285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79884114	chr12:34827296-34827297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112861757	chr12:34827298-34827299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111960194	chr12:34827305-34827306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9705820	chr12:34827309-34827310	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542739015	chr12:34827338-34827339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562710337	chr12:34827350-34827351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531542613	chr12:34827373-34827374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551552888	chr12:34827383-34827384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184764446	chr12:34827385-34827386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371760284	chr12:34827389-34827390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527557125	chr12:34827415-34827416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188095752	chr12:34827443-34827444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78285143	chr12:34827444-34827445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112917799	chr12:34827449-34827450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535601812	chr12:34827461-34827462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76491142	chr12:34827484-34827485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9705829	chr12:34827512-34827513	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538053944	chr12:34827527-34827528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374775150	chr12:34827531-34827532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558042698	chr12:34827539-34827540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143595683	chr12:34827555-34827556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs578210425	chr12:34827566-34827567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181016443	chr12:34827573-34827574	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:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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

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