Variant report

Variant	esv1823842
Chromosome Location	chr5:178105326-178113183
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	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
2	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:

Extended variants
information (count: 325 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10053520	chr5:178105326-178105327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574929020	chr5:178105327-178105328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541935335	chr5:178105328-178105329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113310720	chr5:178105347-178105348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527344532	chr5:178105363-178105364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551776219	chr5:178105366-178105367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141123030	chr5:178105407-178105408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371751112	chr5:178105521-178105522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531511345	chr5:178105565-178105566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549662995	chr5:178105597-178105598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568274786	chr5:178105598-178105599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10074345	chr5:178105620-178105621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547535838	chr5:178105623-178105624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201283284	chr5:178105669-178105670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56323986	chr5:178105670-178105671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75049730	chr5:178105686-178105687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374749469	chr5:178105687-178105688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10903229	chr5:178105705-178105706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563724309	chr5:178105729-178105730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55967507	chr5:178105748-178105749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371216220	chr5:178105755-178105756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386695481	chr5:178105805-178105806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538583607	chr5:178105815-178105816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569129328	chr5:178105816-178105817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187951662	chr5:178105819-178105820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552011178	chr5:178105827-178105828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192090965	chr5:178105828-178105829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560706713	chr5:178105829-178105830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374785854	chr5:178105843-178105844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572048535	chr5:178105887-178105888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545452409	chr5:178105891-178105892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183139268	chr5:178105923-178105924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148081885	chr5:178105949-178105950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367967780	chr5:178105960-178105961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371736719	chr5:178105976-178105977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141865212	chr5:178105986-178105987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561852448	chr5:178106023-178106024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529160219	chr5:178106033-178106034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547280267	chr5:178106042-178106043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114077047	chr5:178106070-178106071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188256080	chr5:178106071-178106072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552703330	chr5:178106086-178106087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150690964	chr5:178106087-178106088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538224062	chr5:178106093-178106094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56712569	chr5:178106104-178106105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568680686	chr5:178106148-178106149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536097465	chr5:178106157-178106158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376460690	chr5:178106158-178106159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60923422	chr5:178106169-178106170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139295325	chr5:178106194-178106195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178104200-178105400	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr5:178104400-178105400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:178104400-178105400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:178105000-178105400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:178105400-178109400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:178105400-178109800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:178108600-178108800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:178110800-178111800	Enhancers	K562	blood
15	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:178112200-178112800	Enhancers	Placenta	Placenta
19	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta

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