Variant report

Variant	esv12687
Chromosome Location	chr5:178218220-178220656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:178219910..178220433-chr5:178257274..178257901,2	MCF-7	breast:
2	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
3	chr5:178219935..178220578-chr5:178266097..178266710,3	MCF-7	breast:
4	chr5:178219826..178220832-chr5:178266011..178266987,10	MCF-7	breast:
5	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
6	chr5:178211735..178215494-chr5:178218190..178221753,4	MCF-7	breast:
7	chr5:178217515..178219756-chr5:178222476..178225165,2	MCF-7	breast:
8	chr5:178219841..178220793-chr5:178920740..178921735,2	MCF-7	breast:
9	chr5:178157501..178158373-chr5:178219857..178220443,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169131	chromatin interactions
ENSG00000250420	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189286793	chr5:178218244-178218245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181954010	chr5:178218249-178218250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6600956	chr5:178218257-178218258	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531332838	chr5:178218268-178218269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543482945	chr5:178218292-178218293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561749846	chr5:178218296-178218297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529024623	chr5:178218313-178218314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62393905	chr5:178218324-178218325	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567068331	chr5:178218352-178218353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577868022	chr5:178218356-178218357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527936051	chr5:178218361-178218362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543983218	chr5:178218380-178218381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs59406591	chr5:178218394-178218395	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111838878	chr5:178218405-178218406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537836199	chr5:178218434-178218435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556168696	chr5:178218449-178218450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34568882	chr5:178218472-178218473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs386695513	chr5:178218473-178218474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201845689	chr5:178218475-178218476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561716019	chr5:178218488-178218489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35333651	chr5:178218501-178218502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535569602	chr5:178218506-178218507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553646304	chr5:178218507-178218508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6862477	chr5:178218516-178218517	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545725207	chr5:178218523-178218524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558022853	chr5:178218541-178218542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576438942	chr5:178218596-178218597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543420206	chr5:178218613-178218614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113443323	chr5:178218645-178218646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs58708368	chr5:178218648-178218649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11956155	chr5:178218669-178218670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528961911	chr5:178218696-178218697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377136821	chr5:178218730-178218731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191963015	chr5:178218740-178218741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546073433	chr5:178218743-178218744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559456277	chr5:178218785-178218786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560432066	chr5:178218789-178218790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374673615	chr5:178218802-178218803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs386695514	chr5:178218806-178218807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113225980	chr5:178218808-178218809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571105596	chr5:178218817-178218818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531906438	chr5:178218821-178218822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181198875	chr5:178218849-178218850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186706807	chr5:178218951-178218952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567149423	chr5:178218963-178218964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34761734	chr5:178218972-178218973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57164835	chr5:178218998-178218999	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555823557	chr5:178219018-178219019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370992878	chr5:178219036-178219037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11952919	chr5:178219042-178219043	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178166600-178224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:178218000-178220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:178218000-178220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178218000-178220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:178220200-178221200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:178220400-178221200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:178220400-178221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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