Variant report

Variant	nsv558339
Chromosome Location	chr12:34810203-34853011
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	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
2	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
3	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
4	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
5	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
6	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
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: 5298 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:5298 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9706509	chr12:34810203-34810204	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539783505	chr12:34810228-34810229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114555061	chr12:34810232-34810233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79107286	chr12:34810247-34810248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192554490	chr12:34810257-34810258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150232392	chr12:34810281-34810282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575748391	chr12:34810307-34810308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184891651	chr12:34810312-34810313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74611453	chr12:34810316-34810317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577600310	chr12:34810320-34810321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142187262	chr12:34810335-34810336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75284238	chr12:34810341-34810342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559863690	chr12:34810347-34810348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74687898	chr12:34810364-34810365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146331487	chr12:34810371-34810372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116489049	chr12:34810374-34810375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531504539	chr12:34810404-34810405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369098512	chr12:34810406-34810407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551402536	chr12:34810416-34810417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112183283	chr12:34810417-34810418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371487232	chr12:34810418-34810419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189860110	chr12:34810450-34810451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142730387	chr12:34810454-34810455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535958273	chr12:34810469-34810470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549431722	chr12:34810485-34810486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569370304	chr12:34810494-34810495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144246208	chr12:34810537-34810538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558195938	chr12:34810578-34810579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182122660	chr12:34810600-34810601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545541915	chr12:34810605-34810606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564251798	chr12:34810614-34810615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573253505	chr12:34810617-34810618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528329564	chr12:34810633-34810634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184625091	chr12:34810648-34810649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148678353	chr12:34810650-34810651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576189549	chr12:34810651-34810652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189509215	chr12:34810656-34810657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113218641	chr12:34810663-34810664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369189223	chr12:34810679-34810680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs180818377	chr12:34810683-34810684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547666934	chr12:34810689-34810690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs199969179	chr12:34810697-34810698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529273340	chr12:34810758-34810759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549247439	chr12:34810762-34810763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569312830	chr12:34810768-34810769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538102996	chr12:34810790-34810791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151233262	chr12:34810804-34810805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571469402	chr12:34810825-34810826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534223040	chr12:34810863-34810864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12099828	chr12:34810870-34810871	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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

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