Variant report

Variant	esv2481942
Chromosome Location	chr1:210076504-210093838
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: 154 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550723240	chr1:210076580-210076581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562788428	chr1:210076581-210076582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530302626	chr1:210076585-210076586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374725487	chr1:210076604-210076605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190493000	chr1:210076616-210076617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560789764	chr1:210076627-210076628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527705339	chr1:210076632-210076633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372638160	chr1:210076751-210076752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142580722	chr1:210076756-210076757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143334572	chr1:210076826-210076827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570872314	chr1:210076827-210076828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183101606	chr1:210076881-210076882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9430020	chr1:210076884-210076885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188478683	chr1:210076920-210076921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72649912	chr1:210076950-210076951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559038738	chr1:210076952-210076953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573058994	chr1:210076981-210076982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533828489	chr1:210077022-210077023	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558158501	chr1:210077077-210077078	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576426827	chr1:210077080-210077081	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543940258	chr1:210077086-210077087	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs72649913	chr1:210077087-210077088	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11119363	chr1:210077113-210077114	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542379714	chr1:210077122-210077123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560506711	chr1:210077127-210077128	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528018613	chr1:210077179-210077180	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148384437	chr1:210077307-210077308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556771014	chr1:210077309-210077310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2142862	chr1:210077317-210077318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147642424	chr1:210077395-210077396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192222726	chr1:210077449-210077450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12144127	chr1:210077450-210077451	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184063305	chr1:210077458-210077459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs80345530	chr1:210077460-210077461	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372184673	chr1:210077462-210077463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568515009	chr1:210077488-210077489	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536073820	chr1:210077489-210077490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548398131	chr1:210077524-210077525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566525868	chr1:210077545-210077546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141562390	chr1:210077553-210077554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11119364	chr1:210077581-210077582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs576436637	chr1:210077593-210077594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7549696	chr1:210077605-210077606	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116825213	chr1:210077607-210077608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61820366	chr1:210077611-210077612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369564838	chr1:210077614-210077615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369079120	chr1:210077616-210077617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554393269	chr1:210077627-210077628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187851371	chr1:210077640-210077641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546531837	chr1:210077660-210077661	Active TSS	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:12 , 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
8	chr1:210092800-210093000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:210093000-210093400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:210093000-210093600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr1:210093000-210093600	Active TSS	K562	blood
12	chr1:210093400-210093600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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