Variant report

Variant	esv3443236
Chromosome Location	chr1:210076929-210087077
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: 93 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72649912	chr1:210076950-210076951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559038738	chr1:210076952-210076953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573058994	chr1:210076981-210076982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533828489	chr1:210077022-210077023	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558158501	chr1:210077077-210077078	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576426827	chr1:210077080-210077081	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543940258	chr1:210077086-210077087	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs72649913	chr1:210077087-210077088	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11119363	chr1:210077113-210077114	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542379714	chr1:210077122-210077123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560506711	chr1:210077127-210077128	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528018613	chr1:210077179-210077180	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148384437	chr1:210077307-210077308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556771014	chr1:210077309-210077310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2142862	chr1:210077317-210077318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147642424	chr1:210077395-210077396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192222726	chr1:210077449-210077450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12144127	chr1:210077450-210077451	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184063305	chr1:210077458-210077459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs80345530	chr1:210077460-210077461	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372184673	chr1:210077462-210077463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568515009	chr1:210077488-210077489	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536073820	chr1:210077489-210077490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548398131	chr1:210077524-210077525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566525868	chr1:210077545-210077546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141562390	chr1:210077553-210077554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11119364	chr1:210077581-210077582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576436637	chr1:210077593-210077594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7549696	chr1:210077605-210077606	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116825213	chr1:210077607-210077608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs61820366	chr1:210077611-210077612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369564838	chr1:210077614-210077615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369079120	chr1:210077616-210077617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554393269	chr1:210077627-210077628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187851371	chr1:210077640-210077641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546531837	chr1:210077660-210077661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191287752	chr1:210077682-210077683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183838397	chr1:210077807-210077808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs72649914	chr1:210077882-210077883	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561919822	chr1:210077892-210077893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559938850	chr1:210077916-210077917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547570743	chr1:210077925-210077926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187074307	chr1:210077994-210077995	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527441662	chr1:210078016-210078017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs199782359	chr1:210078056-210078057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552053785	chr1:210078071-210078072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73095738	chr1:210078092-210078093	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182369837	chr1:210079408-210079409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199733489	chr1:210079415-210079416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149306423	chr1:210079478-210079479	Weak transcription	n/a	n/a	Overlapped CNVs	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210076200-210077000	Enhancers	HMEC	breast
2	chr1:210077000-210077200	Flanking Active TSS	HMEC	breast
3	chr1:210077200-210078200	Active TSS	HMEC	breast
4	chr1:210079400-210081000	Weak transcription	Fetal Kidney	kidney
5	chr1:210084800-210085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:210084800-210086000	Enhancers	HMEC	breast
7	chr1:210086200-210086400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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