Variant report

Variant	esv2159438
Chromosome Location	chr5:178704125-178704559
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	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572329385	chr5:178704144-178704145	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs539436450	chr5:178704147-178704148	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs557441542	chr5:178704189-178704190	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs575971116	chr5:178704232-178704233	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540499481	chr5:178704239-178704240	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs431087	chr5:178704252-178704253	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543190348	chr5:178704261-178704262	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73807103	chr5:178704270-178704271	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574739702	chr5:178704276-178704277	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541975536	chr5:178704288-178704289	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183620958	chr5:178704301-178704302	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62395001	chr5:178704305-178704306	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139978660	chr5:178704320-178704321	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530537863	chr5:178704322-178704323	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552559817	chr5:178704346-178704347	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372935911	chr5:178704348-178704349	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199533817	chr5:178704355-178704356	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200816366	chr5:178704365-178704366	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549777447	chr5:178704386-178704387	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369439602	chr5:178704387-178704388	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111712064	chr5:178704394-178704395	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199956368	chr5:178704411-178704412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543947945	chr5:178704437-178704438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546231288	chr5:178704457-178704458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548729167	chr5:178704458-178704459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79157300	chr5:178704459-178704460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78078658	chr5:178704510-178704511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80152489	chr5:178704516-178704517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71596412	chr5:178704517-178704518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71596413	chr5:178704526-178704527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178691000-178705000	Enhancers	NHDF-Ad	bronchial
2	chr5:178691600-178707000	Enhancers	Ovary	ovary
3	chr5:178692000-178704400	Enhancers	Placenta	Placenta
4	chr5:178692000-178711800	Weak transcription	Gastric	stomach
5	chr5:178695400-178704200	Enhancers	Fetal Lung	lung
6	chr5:178698400-178707000	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:178699000-178704200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:178699800-178704200	Enhancers	Adipose Nuclei	Adipose
9	chr5:178699800-178707600	Enhancers	Fetal Muscle Leg	muscle
10	chr5:178700000-178704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:178700000-178705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:178700000-178706800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:178700600-178704200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:178701400-178704200	Enhancers	Colonic Mucosa	Colon
15	chr5:178701400-178704200	Enhancers	Lung	lung
16	chr5:178701600-178704200	Enhancers	Right Atrium	heart
17	chr5:178701800-178704200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:178702400-178704200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:178702400-178704200	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:178702400-178704200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:178702800-178704400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:178703000-178704400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:178703200-178704200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:178703200-178704400	Enhancers	Fetal Stomach	stomach
25	chr5:178703400-178704200	Enhancers	Esophagus	oesophagus
26	chr5:178703400-178704200	Enhancers	Left Ventricle	heart
27	chr5:178703400-178704400	Enhancers	NHLF	lung
28	chr5:178703600-178704200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:178703600-178704200	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:178703600-178704200	Enhancers	Right Ventricle	heart
31	chr5:178703600-178704200	Enhancers	Spleen	Spleen
32	chr5:178703600-178704200	Enhancers	NH-A	brain
33	chr5:178703600-178704400	Enhancers	HSMM	muscle
34	chr5:178703600-178706600	Enhancers	Osteobl	bone
35	chr5:178703800-178704200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:178703800-178704200	Enhancers	Pancreas	Pancrea
37	chr5:178703800-178704200	Enhancers	HSMMtube	muscle
38	chr5:178703800-178704400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:178703800-178706400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:178704000-178704200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:178704000-178704200	Enhancers	Fetal Intestine Small	intestine
42	chr5:178704000-178704400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:178704000-178704600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:178704000-178704600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:178704200-178704400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:178704200-178705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:178704200-178705200	Weak transcription	Fetal Lung	lung
48	chr5:178704200-178705200	Weak transcription	HSMMtube	muscle
49	chr5:178704200-178705400	Weak transcription	Adipose Nuclei	Adipose
50	chr5:178704200-178705400	Weak transcription	Rectal Mucosa Donor 31	rectum

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