Variant report

Variant	esv3452796
Chromosome Location	chr1:247231073-247233027
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	chr1:247229715..247234769-chr1:247235903..247241738,8	K562	blood:
2	chr1:247227561..247229159-chr1:247231241..247233121,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539196159	chr1:247231093-247231094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189384576	chr1:247231127-247231128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561084822	chr1:247231144-247231145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61211824	chr1:247231156-247231157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181486624	chr1:247231207-247231208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115784344	chr1:247231346-247231347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs55767335	chr1:247231351-247231352	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571417872	chr1:247231386-247231387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147023176	chr1:247231437-247231438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544543769	chr1:247231465-247231466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556954463	chr1:247231471-247231472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567164472	chr1:247231497-247231498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113726729	chr1:247231587-247231588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs57053301	chr1:247231588-247231589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372209623	chr1:247231621-247231622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536214822	chr1:247231631-247231632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74163724	chr1:247231639-247231640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12131489	chr1:247231641-247231642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555786310	chr1:247231761-247231762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375739906	chr1:247231765-247231766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543551969	chr1:247231794-247231795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534927440	chr1:247231821-247231822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574838859	chr1:247231847-247231848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187091933	chr1:247231864-247231865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557925986	chr1:247231867-247231868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542233894	chr1:247231884-247231885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138198385	chr1:247231886-247231887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543525824	chr1:247231889-247231890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191174384	chr1:247231910-247231911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141753649	chr1:247231930-247231931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150556853	chr1:247231931-247231932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559431411	chr1:247231961-247231962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560516533	chr1:247232003-247232004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528394674	chr1:247232067-247232068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs397863717	chr1:247232132-247232133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35582452	chr1:247232151-247232152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551632770	chr1:247232157-247232158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565060306	chr1:247232167-247232168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78617181	chr1:247232183-247232184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565431321	chr1:247232184-247232185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149592722	chr1:247232195-247232196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146079748	chr1:247232206-247232207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535877812	chr1:247232243-247232244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114925971	chr1:247232244-247232245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566077945	chr1:247232247-247232248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534963876	chr1:247232255-247232256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557964216	chr1:247232299-247232300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577838358	chr1:247232300-247232301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368222004	chr1:247232312-247232313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115477765	chr1:247232344-247232345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
abnormal development	18461090	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247218600-247240600	Weak transcription	HSMMtube	muscle
2	chr1:247219000-247240400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:247219600-247240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:247226200-247232000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:247227600-247237800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:247227600-247241400	Weak transcription	Pancreas	Pancrea
7	chr1:247227800-247241000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:247227800-247241000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:247228000-247238000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:247228000-247241000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:247228200-247240400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:247228400-247231400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:247231400-247231600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:247231400-247231800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:247231400-247232400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:247231800-247232200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
17	chr1:247231800-247240600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:247232000-247234800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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