Variant report

Variant	esv1002272
Chromosome Location	chr1:210077643-210093289
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	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:
2	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546531837	chr1:210077660-210077661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191287752	chr1:210077682-210077683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183838397	chr1:210077807-210077808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72649914	chr1:210077882-210077883	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561919822	chr1:210077892-210077893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559938850	chr1:210077916-210077917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547570743	chr1:210077925-210077926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187074307	chr1:210077994-210077995	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527441662	chr1:210078016-210078017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199782359	chr1:210078056-210078057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552053785	chr1:210078071-210078072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73095738	chr1:210078092-210078093	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182369837	chr1:210079408-210079409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199733489	chr1:210079415-210079416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149306423	chr1:210079478-210079479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560630857	chr1:210079536-210079537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144536463	chr1:210079602-210079603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547491510	chr1:210079630-210079631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570580206	chr1:210079756-210079757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527381858	chr1:210079981-210079982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113231199	chr1:210080050-210080051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558418806	chr1:210080066-210080067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539596547	chr1:210080072-210080073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546682355	chr1:210080110-210080111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142650270	chr1:210080167-210080168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566563792	chr1:210080242-210080243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552589582	chr1:210080314-210080315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185749341	chr1:210080491-210080492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67668018	chr1:210080745-210080746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573978314	chr1:210080746-210080747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150510412	chr1:210080771-210080772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140346755	chr1:210080774-210080775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72649915	chr1:210080841-210080842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369953891	chr1:210080985-210080986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542362165	chr1:210084823-210084824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561010655	chr1:210084830-210084831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58638851	chr1:210084880-210084881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546827385	chr1:210084971-210084972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117128985	chr1:210085037-210085038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532716366	chr1:210085106-210085107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550855326	chr1:210085107-210085108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11587397	chr1:210085120-210085121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150775656	chr1:210085181-210085182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529305437	chr1:210085451-210085452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72649918	chr1:210085587-210085588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569229621	chr1:210085600-210085601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78715764	chr1:210085640-210085641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555925215	chr1:210085666-210085667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534270527	chr1:210085824-210085825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1883309	chr1:210085870-210085871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210077200-210078200	Active TSS	HMEC	breast
2	chr1:210079400-210081000	Weak transcription	Fetal Kidney	kidney
3	chr1:210084800-210085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:210084800-210086000	Enhancers	HMEC	breast
5	chr1:210086200-210086400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:210092800-210093000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:210093000-210093400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:210093000-210093600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:210093000-210093600	Active TSS	K562	blood

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