Variant report

Variant	esv1818074
Chromosome Location	chr1:224069625-224092240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:
2	chr1:224063820..224066455-chr1:224070379..224072043,2	K562	blood:
3	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:
4	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:
5	chr1:224064706..224067481-chr1:224068167..224069755,2	MCF-7	breast:
6	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:

Extended variants
information (count: 649 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142848275	chr1:224069663-224069664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527417654	chr1:224069730-224069731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548314144	chr1:224069813-224069814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567811001	chr1:224069820-224069821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543271967	chr1:224069823-224069824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183247274	chr1:224069851-224069852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536895094	chr1:224069925-224069926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189149057	chr1:224069930-224069931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1981168	chr1:224069951-224069952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559386883	chr1:224069964-224069965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556567748	chr1:224069965-224069966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1981169	chr1:224069972-224069973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs16842349	chr1:224069987-224069988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1981170	chr1:224070042-224070043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183923618	chr1:224070077-224070078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563983795	chr1:224070079-224070080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571061207	chr1:224070128-224070129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534773433	chr1:224070131-224070132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538634277	chr1:224070135-224070136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532738427	chr1:224070179-224070180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553100501	chr1:224070192-224070193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373545199	chr1:224070210-224070211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146100069	chr1:224070222-224070223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535469511	chr1:224070239-224070240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531365614	chr1:224070268-224070269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576271037	chr1:224070285-224070286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57452388	chr1:224070329-224070330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58880918	chr1:224070331-224070332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540494375	chr1:224070332-224070333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373417724	chr1:224070339-224070340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370511968	chr1:224070351-224070352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186708023	chr1:224070379-224070380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558443587	chr1:224070438-224070439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115716344	chr1:224070471-224070472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191939143	chr1:224070533-224070534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140017122	chr1:224070537-224070538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541081481	chr1:224070549-224070550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1037952	chr1:224070559-224070560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143607205	chr1:224070588-224070589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531088129	chr1:224070590-224070591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184850492	chr1:224070635-224070636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574537371	chr1:224070703-224070704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71644755	chr1:224070756-224070757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570945925	chr1:224070773-224070774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12031539	chr1:224070781-224070782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546639833	chr1:224070782-224070783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375018701	chr1:224070811-224070812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12032254	chr1:224070824-224070825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535432130	chr1:224070826-224070827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557059410	chr1:224070849-224070850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224064200-224074400	Weak transcription	K562	blood
2	chr1:224071800-224072200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:224072000-224072200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:224072200-224072400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:224073000-224077400	Enhancers	Liver	Liver
9	chr1:224073200-224074400	Enhancers	Pancreas	Pancrea
10	chr1:224073400-224075000	Enhancers	HepG2	liver
11	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
12	chr1:224074000-224074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:224074000-224075400	Enhancers	Hela-S3	cervix
14	chr1:224074200-224074400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:224074200-224074600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:224074200-224075200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:224074200-224075400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:224074200-224075400	Enhancers	A549	lung
19	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:224074400-224074800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224074400-224075000	Enhancers	NHEK	skin
22	chr1:224074400-224075200	Enhancers	HSMMtube	muscle
23	chr1:224074400-224075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:224074400-224075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:224074400-224075400	Enhancers	NHLF	lung
26	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:224074400-224076200	Enhancers	Right Atrium	heart
28	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:224074600-224075400	Enhancers	NH-A	brain
30	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:224074800-224075600	Enhancers	Left Ventricle	heart
33	chr1:224074800-224075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:224075000-224075400	Weak transcription	NHEK	skin
35	chr1:224075000-224075600	Enhancers	Fetal Heart	heart
36	chr1:224075000-224075600	Enhancers	HSMM	muscle
37	chr1:224075000-224075600	Enhancers	NHDF-Ad	bronchial
38	chr1:224075000-224075600	Enhancers	Osteobl	bone
39	chr1:224075000-224075800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:224075000-224075800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:224075200-224075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:224075200-224075400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:224075200-224075400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:224075200-224075400	Flanking Active TSS	HSMMtube	muscle
45	chr1:224075200-224075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:224075200-224075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:224075200-224075600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:224075200-224075800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:224075200-224076200	Enhancers	Fetal Stomach	stomach
50	chr1:224075400-224075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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