Variant report

Variant	esv21093
Chromosome Location	chr1:224860202-224861277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224861153..224861782-chr1:225038916..225039745,2	MCF-7	breast:
2	chr1:224850263..224854124-chr1:224858225..224860779,3	MCF-7	breast:
3	chr1:224859647..224863135-chr1:224864370..224868600,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56195037	chr1:224860213-224860214	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12134264	chr1:224860267-224860268	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116526161	chr1:224860285-224860286	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192909322	chr1:224860326-224860327	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545067796	chr1:224860355-224860356	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560508182	chr1:224860357-224860358	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74146246	chr1:224860370-224860371	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543165491	chr1:224860401-224860402	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561434916	chr1:224860409-224860410	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12133496	chr1:224860443-224860444	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs185472351	chr1:224860448-224860449	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12144488	chr1:224860465-224860466	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141152353	chr1:224860487-224860488	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189523074	chr1:224860502-224860503	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12133529	chr1:224860520-224860521	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555669039	chr1:224860524-224860525	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554251580	chr1:224860565-224860566	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117720764	chr1:224860608-224860609	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569463029	chr1:224860611-224860612	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114406378	chr1:224860633-224860634	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558759464	chr1:224860635-224860636	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115158880	chr1:224860637-224860638	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116993940	chr1:224860643-224860644	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554180905	chr1:224860692-224860693	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572490026	chr1:224860699-224860700	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181525512	chr1:224860720-224860721	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7521221	chr1:224860790-224860791	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139937184	chr1:224860813-224860814	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543638925	chr1:224860827-224860828	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565502595	chr1:224860829-224860830	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184987763	chr1:224860889-224860890	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6426145	chr1:224860951-224860952	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565294687	chr1:224860962-224860963	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529642611	chr1:224860973-224860974	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143672882	chr1:224861088-224861089	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6426146	chr1:224861098-224861099	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188232657	chr1:224861122-224861123	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151267193	chr1:224861146-224861147	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78566403	chr1:224861161-224861162	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377543609	chr1:224861190-224861191	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572423871	chr1:224861214-224861215	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6666840	chr1:224861255-224861256	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139315288	chr1:224861273-224861274	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6666853	chr1:224861276-224861277	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224851400-224863000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:224857000-224862600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:224857200-224860800	Weak transcription	Left Ventricle	heart
7	chr1:224857200-224860800	Weak transcription	Ovary	ovary
8	chr1:224857200-224869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:224857200-224869200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:224857400-224860600	Weak transcription	Fetal Heart	heart
11	chr1:224857400-224860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:224857400-224860800	Weak transcription	Fetal Stomach	stomach
13	chr1:224857400-224860800	Weak transcription	Pancreas	Pancrea
14	chr1:224857400-224861000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:224858400-224871800	Weak transcription	NHLF	lung
16	chr1:224858400-224874200	Weak transcription	NH-A	brain
17	chr1:224858600-224860600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:224858600-224861800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:224859600-224871400	Weak transcription	NHDF-Ad	bronchial
20	chr1:224860200-224861800	Enhancers	Fetal Brain Male	brain
21	chr1:224860600-224861200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:224860600-224861800	Enhancers	Fetal Heart	heart
23	chr1:224860600-224861800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:224860800-224861000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:224860800-224861000	Enhancers	Pancreas	Pancrea
26	chr1:224860800-224861200	Enhancers	Fetal Lung	lung
27	chr1:224860800-224861200	Enhancers	Lung	lung
28	chr1:224860800-224861200	Enhancers	Ovary	ovary
29	chr1:224860800-224861400	Enhancers	Fetal Brain Female	brain
30	chr1:224860800-224861400	Enhancers	Fetal Stomach	stomach
31	chr1:224860800-224862400	Enhancers	Fetal Muscle Leg	muscle
32	chr1:224860800-224862400	Enhancers	Left Ventricle	heart
33	chr1:224860800-224862400	Enhancers	Right Atrium	heart
34	chr1:224861000-224861200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:224861000-224861400	Enhancers	Adipose Nuclei	Adipose
36	chr1:224861000-224861600	Weak transcription	Pancreas	Pancrea
37	chr1:224861000-224861600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:224861000-224863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:224861200-224862200	Weak transcription	Lung	lung
40	chr1:224861200-224865200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:224861200-224876800	Weak transcription	Ovary	ovary

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