Variant report

Variant	esv3453481
Chromosome Location	chr1:224259311-224260036
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	chr1:224254185..224256416-chr1:224258081..224260158,2	K562	blood:
2	chr1:224257733..224260282-chr1:224271345..224273145,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1602713	chr1:224259311-224259312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576139006	chr1:224259315-224259316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531444919	chr1:224259331-224259332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551148162	chr1:224259338-224259339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112578640	chr1:224259402-224259403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368026954	chr1:224259403-224259404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558576485	chr1:224259419-224259420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142813917	chr1:224259452-224259453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544940035	chr1:224259458-224259459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369522564	chr1:224259470-224259471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35805413	chr1:224259484-224259485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs1602712	chr1:224259486-224259487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs185866134	chr1:224259492-224259493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191608016	chr1:224259504-224259505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531477739	chr1:224259545-224259546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35533869	chr1:224259546-224259547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564905892	chr1:224259563-224259564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1602711	chr1:224259586-224259587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs182561931	chr1:224259607-224259608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569216145	chr1:224259610-224259611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566369374	chr1:224259646-224259647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536407887	chr1:224259763-224259764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12120211	chr1:224259799-224259800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs373122389	chr1:224259812-224259813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569812006	chr1:224259818-224259819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541263610	chr1:224259863-224259864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558513402	chr1:224259864-224259865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577135613	chr1:224259867-224259868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12402838	chr1:224259933-224259934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs370369686	chr1:224259979-224259980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572345000	chr1:224259992-224259993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148108148	chr1:224259994-224259995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78802855	chr1:224260008-224260009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72751660	chr1:224260022-224260023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561092706	chr1:224260027-224260028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140411888	chr1:224260028-224260029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200939014	chr1:224260030-224260031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202131079	chr1:224260031-224260032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150370757	chr1:224260032-224260033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61016571	chr1:224260033-224260034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200204997	chr1:224260034-224260035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200981356	chr1:224260035-224260036	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224253800-224260400	Weak transcription	Pancreas	Pancrea
2	chr1:224255200-224259600	Enhancers	K562	blood
3	chr1:224256200-224267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224256400-224261400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224259600-224263000	Weak transcription	K562	blood

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