Variant report

Variant	esv3443018
Chromosome Location	chr1:223822954-223825502
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	chr1:223823766..223826400-chr1:223828935..223830773,2	K562	blood:
2	chr1:223825136..223827090-chr1:223853987..223856973,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548617882	chr1:223822963-223822964	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561686394	chr1:223822964-223822965	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182581575	chr1:223822967-223822968	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530937248	chr1:223822982-223822983	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74521891	chr1:223822999-223823000	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571391414	chr1:223823023-223823024	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538835194	chr1:223823053-223823054	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187531498	chr1:223823061-223823062	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542757663	chr1:223823066-223823067	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386639754	chr1:223823088-223823089	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34127128	chr1:223823089-223823090	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74145955	chr1:223823125-223823126	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554175777	chr1:223823126-223823127	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34160961	chr1:223823129-223823130	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536792049	chr1:223823173-223823174	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558631035	chr1:223823207-223823208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67213726	chr1:223823255-223823256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150323808	chr1:223823257-223823258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35963840	chr1:223823302-223823303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549063702	chr1:223823318-223823319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575246057	chr1:223823320-223823321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542521979	chr1:223823341-223823342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563721450	chr1:223823365-223823366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71644746	chr1:223823411-223823412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56211169	chr1:223823453-223823454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78194473	chr1:223823464-223823465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35970939	chr1:223823502-223823503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71524967	chr1:223823555-223823556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552246749	chr1:223823559-223823560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28395431	chr1:223823593-223823594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75660587	chr1:223823684-223823685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75753442	chr1:223823866-223823867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143751068	chr1:223823919-223823920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28972957	chr1:223823939-223823940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28971445	chr1:223823957-223823958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140598585	chr1:223824048-223824049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28633974	chr1:223824121-223824122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535413769	chr1:223824139-223824140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28449537	chr1:223824192-223824193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576050441	chr1:223824230-223824231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28416889	chr1:223824273-223824274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34726440	chr1:223824321-223824322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9659094	chr1:223824412-223824413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565523037	chr1:223824502-223824503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28679358	chr1:223824503-223824504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185710094	chr1:223824510-223824511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28537987	chr1:223824594-223824595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs56183786	chr1:223824601-223824602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570543562	chr1:223824633-223824634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534694213	chr1:223824634-223824635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223808600-223825000	Weak transcription	Gastric	stomach
2	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
3	chr1:223822000-223823200	Enhancers	Liver	Liver
4	chr1:223822200-223833400	Weak transcription	Pancreas	Pancrea
5	chr1:223822800-223823200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:223822800-223823200	Genic enhancers	Stomach Mucosa	stomach
7	chr1:223823200-223824800	Weak transcription	Stomach Mucosa	stomach
8	chr1:223823200-223825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:223823200-223826400	Weak transcription	Liver	Liver
10	chr1:223823400-223826400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:223824800-223825000	Enhancers	Stomach Mucosa	stomach
12	chr1:223825000-223825200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:223825000-223825200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr1:223825000-223825200	ZNF genes & repeats	Gastric	stomach
15	chr1:223825000-223825200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:223825000-223825400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:223825000-223826000	Genic enhancers	Stomach Mucosa	stomach
18	chr1:223825200-223826400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:223825200-223827400	Weak transcription	Gastric	stomach

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