Variant report

Variant	esv3528477
Chromosome Location	chr1:224230179-224232777
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	chr1:224231878..224234198-chr1:224234605..224237378,2	K562	blood:
2	chr1:224232698..224234827-chr1:224235389..224237378,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150192554	chr1:224230180-224230181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547620143	chr1:224230210-224230211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138746044	chr1:224230237-224230238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71644767	chr1:224230246-224230247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116371940	chr1:224230266-224230267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10916196	chr1:224230291-224230292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551687976	chr1:224230304-224230305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10916197	chr1:224230307-224230308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534370191	chr1:224230352-224230353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73116478	chr1:224230493-224230494	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187305481	chr1:224230614-224230615	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567706624	chr1:224230664-224230665	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373838112	chr1:224230702-224230703	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569641513	chr1:224230707-224230708	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537962932	chr1:224230708-224230709	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192640606	chr1:224230739-224230740	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117183177	chr1:224230792-224230793	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376322307	chr1:224231022-224231023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185473866	chr1:224231025-224231026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551224898	chr1:224231101-224231102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200219879	chr1:224231112-224231113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562125090	chr1:224231116-224231117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373772625	chr1:224231186-224231187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532800284	chr1:224231198-224231199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550980048	chr1:224231216-224231217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567126977	chr1:224231218-224231219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527981498	chr1:224231223-224231224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549515348	chr1:224231229-224231230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567804261	chr1:224231232-224231233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538333693	chr1:224231235-224231236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201767615	chr1:224231238-224231239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556722276	chr1:224231262-224231263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571651553	chr1:224231363-224231364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148133347	chr1:224231378-224231379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538998857	chr1:224231463-224231464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554228021	chr1:224231467-224231468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573044596	chr1:224231484-224231485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540163521	chr1:224231485-224231486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12038420	chr1:224231527-224231528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12041163	chr1:224231613-224231614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543890688	chr1:224231767-224231768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61823345	chr1:224231825-224231826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189959485	chr1:224231847-224231848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546535038	chr1:224231980-224231981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73116483	chr1:224232015-224232016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527978231	chr1:224232022-224232023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144010779	chr1:224232044-224232045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193035325	chr1:224232084-224232085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531976918	chr1:224232131-224232132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534689382	chr1:224232132-224232133	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Cancer	17060936	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224229400-224230800	Enhancers	HUVEC	blood vessel
2	chr1:224229600-224230600	Weak transcription	Gastric	stomach
3	chr1:224229800-224230200	Weak transcription	K562	blood
4	chr1:224230000-224230400	Enhancers	GM12878-XiMat	blood
5	chr1:224230200-224230400	Enhancers	K562	blood
6	chr1:224230400-224230600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:224230400-224230800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224230400-224230800	Enhancers	Fetal Lung	lung
9	chr1:224230400-224230800	Flanking Active TSS	K562	blood
10	chr1:224230600-224230800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:224230600-224230800	Enhancers	Gastric	stomach
12	chr1:224230600-224230800	Enhancers	Lung	lung
13	chr1:224230600-224230800	Enhancers	NHDF-Ad	bronchial
14	chr1:224231000-224231600	Weak transcription	K562	blood
15	chr1:224231400-224232600	Enhancers	Fetal Brain Male	brain
16	chr1:224231800-224232000	Enhancers	K562	blood
17	chr1:224232400-224240400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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