Variant report

Variant	esv1009136
Chromosome Location	chr1:220607563-220613446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:220613327-220613337	K562	blood:	n/a	n/a
2	CEBPB	chr1:220613189-220613288	A549	lung:	n/a	n/a
3	POLR2A	chr1:220609378-220609775	H1-neurons	neurons:	n/a	n/a
4	RFX5	chr1:220608090-220608094	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARK1-2	chr1:220608966-220608985	XLOC_000570

Variant related genes	Relation type
ENSG00000224867	TF binding region

Extended variants
information (count: 212 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112065144	chr1:220607570-220607571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74139669	chr1:220607572-220607573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375537417	chr1:220607608-220607609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547276417	chr1:220607611-220607612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1361256	chr1:220607685-220607686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377110944	chr1:220607705-220607706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190059229	chr1:220607729-220607730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532908548	chr1:220607801-220607802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549493594	chr1:220607876-220607877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569295234	chr1:220607885-220607886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1338767	chr1:220607891-220607892	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554842289	chr1:220607904-220607905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374791571	chr1:220607915-220607916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181901573	chr1:220607971-220607972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534364022	chr1:220608025-220608026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149080422	chr1:220608064-220608065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577238369	chr1:220608077-220608078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546294752	chr1:220608095-220608096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144820377	chr1:220608100-220608101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12032166	chr1:220608142-220608143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542290847	chr1:220608151-220608152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187347476	chr1:220608197-220608198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555004310	chr1:220608198-220608199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138756125	chr1:220608231-220608232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79904081	chr1:220608232-220608233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191022043	chr1:220608240-220608241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564106168	chr1:220608241-220608242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141798660	chr1:220608262-220608263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548846394	chr1:220608283-220608284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73092271	chr1:220608308-220608309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532711013	chr1:220608327-220608328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569461137	chr1:220608340-220608341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553956117	chr1:220608348-220608349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115396241	chr1:220608350-220608351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548579945	chr1:220608362-220608363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568704375	chr1:220608454-220608455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73092272	chr1:220608477-220608478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73092273	chr1:220608488-220608489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564121388	chr1:220608521-220608522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533059716	chr1:220608634-220608635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548545163	chr1:220608642-220608643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570939674	chr1:220608644-220608645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546246406	chr1:220608713-220608714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540078120	chr1:220608723-220608724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567475146	chr1:220608749-220608750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556691306	chr1:220608760-220608761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180760251	chr1:220608761-220608762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146275143	chr1:220608800-220608801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184962822	chr1:220608806-220608807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34574299	chr1:220608838-220608839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Ewing''s sarcoma	17952124	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220605400-220609200	Weak transcription	Fetal Heart	heart
2	chr1:220606600-220607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:220606800-220614200	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:220607800-220608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:220609000-220609800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:220609200-220610000	Enhancers	Fetal Heart	heart
7	chr1:220610000-220624000	Weak transcription	Fetal Heart	heart

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