Variant report

Variant	esv2760986
Chromosome Location	chr5:147180483-147185466
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	chr5:147184794..147187475-chr5:147189094..147190857,2	MCF-7	breast:

Extended variants
information (count: 181 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs4583876	chr5:147180483-147180484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75194567	chr5:147180494-147180495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189822679	chr5:147180524-147180525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578103736	chr5:147180525-147180526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146915734	chr5:147180548-147180549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527693923	chr5:147180552-147180553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181927275	chr5:147180553-147180554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571002337	chr5:147180576-147180577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528463584	chr5:147180579-147180580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538430325	chr5:147180619-147180620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550428421	chr5:147180647-147180648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144677222	chr5:147180667-147180668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184735643	chr5:147180712-147180713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568745909	chr5:147180732-147180733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12110175	chr5:147180762-147180763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs376265519	chr5:147180783-147180784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148496072	chr5:147180810-147180811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188824584	chr5:147180867-147180868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533558845	chr5:147180870-147180871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17624863	chr5:147180883-147180884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142807360	chr5:147180907-147180908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72835193	chr5:147180921-147180922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147842566	chr5:147180972-147180973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542633354	chr5:147180997-147180998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542066125	chr5:147181058-147181059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17773973	chr5:147181099-147181100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs368281346	chr5:147181190-147181191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139795426	chr5:147181194-147181195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552328523	chr5:147181276-147181277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564553746	chr5:147181311-147181312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200908446	chr5:147181335-147181336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531510025	chr5:147181347-147181348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531868169	chr5:147181373-147181374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550322076	chr5:147181394-147181395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372152929	chr5:147181403-147181404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36059247	chr5:147181424-147181425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568638326	chr5:147181443-147181444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561870744	chr5:147181492-147181493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80355604	chr5:147181619-147181620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375215673	chr5:147181621-147181622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114483473	chr5:147181711-147181712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145219228	chr5:147181813-147181814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113749942	chr5:147181847-147181848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180794884	chr5:147181848-147181849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570191934	chr5:147181877-147181878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185213387	chr5:147181894-147181895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72835195	chr5:147181902-147181903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147625681	chr5:147181917-147181918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140774372	chr5:147181935-147181936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541705197	chr5:147181988-147181989	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatitis	16823394	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147180400-147182000	Enhancers	Liver	Liver
2	chr5:147182000-147183200	Weak transcription	Liver	Liver
3	chr5:147182200-147182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:147182200-147182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:147182400-147183000	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:147182400-147183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:147182400-147183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:147182600-147184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:147182600-147185800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:147182800-147185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:147183000-147183400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:147183000-147184000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:147183000-147184200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:147183000-147184400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:147183200-147184200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:147183200-147184200	Enhancers	Liver	Liver
17	chr5:147183200-147184400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:147183200-147184800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:147183200-147185600	Enhancers	Fetal Lung	lung
20	chr5:147183400-147185600	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:147183600-147184000	Enhancers	Ovary	ovary
22	chr5:147183600-147184200	Enhancers	Brain Hippocampus Middle	brain
23	chr5:147183600-147184200	Enhancers	Brain Substantia Nigra	brain
24	chr5:147183600-147184600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:147183600-147185600	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:147183800-147184200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:147183800-147184200	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr5:147183800-147184200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:147183800-147184200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:147183800-147184200	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:147183800-147184400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:147183800-147184400	Enhancers	Brain Anterior Caudate	brain
33	chr5:147183800-147184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:147183800-147184600	Enhancers	Adipose Nuclei	Adipose
35	chr5:147183800-147184800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:147183800-147184800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:147183800-147185200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:147183800-147185200	Enhancers	Fetal Thymus	thymus
39	chr5:147183800-147185200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:147184000-147184400	Enhancers	GM12878-XiMat	blood
41	chr5:147184000-147184600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:147184000-147184600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr5:147184000-147184600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:147184000-147184600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:147184000-147184800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:147184000-147185000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:147184000-147185200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr5:147184200-147184400	Enhancers	Primary B cells from cord blood	blood
49	chr5:147184200-147184600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:147184200-147184600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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