Variant report

Variant	esv3376434
Chromosome Location	chr5:178579396-178581894
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	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546541233	chr5:178579414-178579415	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575575405	chr5:178579416-178579417	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542653447	chr5:178579417-178579418	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369168811	chr5:178579438-178579439	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528084155	chr5:178579445-178579446	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546416010	chr5:178579457-178579458	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566466156	chr5:178579463-178579464	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564975452	chr5:178579511-178579512	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116152382	chr5:178579571-178579572	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547191808	chr5:178579589-178579590	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs527260460	chr5:178579634-178579635	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532255506	chr5:178579661-178579662	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570026419	chr5:178579713-178579714	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537304452	chr5:178579742-178579743	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3776817	chr5:178579748-178579749	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs567594279	chr5:178579800-178579801	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568704564	chr5:178579844-178579845	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35557468	chr5:178579850-178579851	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55863715	chr5:178579876-178579877	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553221588	chr5:178579900-178579901	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578023428	chr5:178579901-178579902	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3776818	chr5:178579914-178579915	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs557152869	chr5:178579975-178579976	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115660592	chr5:178579987-178579988	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554185179	chr5:178579991-178579992	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73807259	chr5:178579997-178579998	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375279762	chr5:178580013-178580014	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10076242	chr5:178580028-178580029	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572783694	chr5:178580043-178580044	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577658462	chr5:178580055-178580056	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370663281	chr5:178580062-178580063	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370424643	chr5:178580070-178580071	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10076252	chr5:178580091-178580092	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs180776382	chr5:178580102-178580103	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201745388	chr5:178580113-178580114	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563586987	chr5:178580121-178580122	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185762170	chr5:178580122-178580123	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549447053	chr5:178580126-178580127	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375844745	chr5:178580132-178580133	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567927985	chr5:178580141-178580142	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150925656	chr5:178580149-178580150	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142298647	chr5:178580236-178580237	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374721702	chr5:178580272-178580273	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546938354	chr5:178580294-178580295	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190242507	chr5:178580295-178580296	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539088978	chr5:178580314-178580315	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557485477	chr5:178580321-178580322	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569110949	chr5:178580346-178580347	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536434266	chr5:178580354-178580355	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35039877	chr5:178580355-178580356	Strong transcription ZNF genes & repeats Weak transcription Genic 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
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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178549400-178590800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:178551600-178582800	Weak transcription	Right Atrium	heart
3	chr5:178554000-178587800	Weak transcription	Colonic Mucosa	Colon
4	chr5:178557000-178585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:178565200-178582600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:178565600-178579400	Weak transcription	Ovary	ovary
7	chr5:178567000-178594000	Weak transcription	Gastric	stomach
8	chr5:178567200-178581000	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:178570800-178579600	Weak transcription	HSMM	muscle
10	chr5:178570800-178593800	Weak transcription	NHDF-Ad	bronchial
11	chr5:178573600-178582800	Weak transcription	Fetal Brain Male	brain
12	chr5:178574400-178586400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:178574600-178583000	Weak transcription	Liver	Liver
14	chr5:178574600-178583400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178574800-178581600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:178574800-178583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:178574800-178590400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:178575000-178583400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:178575000-178589400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:178575200-178583200	Strong transcription	Fetal Stomach	stomach
21	chr5:178575200-178587000	Strong transcription	Osteobl	bone
22	chr5:178575600-178580800	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr5:178575600-178583200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:178575600-178583200	Strong transcription	Adipose Nuclei	Adipose
25	chr5:178575800-178582400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:178575800-178583000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:178576200-178582000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:178576200-178582000	Strong transcription	NHLF	lung
29	chr5:178576600-178579600	Strong transcription	HSMMtube	muscle
30	chr5:178577400-178579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:178578400-178579600	Strong transcription	Aorta	Aorta
32	chr5:178578400-178587800	Weak transcription	Fetal Intestine Small	intestine
33	chr5:178578600-178582000	Genic enhancers	Spleen	Spleen
34	chr5:178578600-178582800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:178578800-178579600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr5:178579000-178581000	Strong transcription	Fetal Lung	lung
37	chr5:178579200-178579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:178579400-178579800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:178579400-178581000	Strong transcription	Ovary	ovary
40	chr5:178579600-178579800	Weak transcription	Aorta	Aorta
41	chr5:178579600-178579800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr5:178579600-178580000	Enhancers	Fetal Muscle Trunk	muscle
43	chr5:178579600-178581200	Strong transcription	HSMM	muscle
44	chr5:178579600-178581800	Weak transcription	HSMMtube	muscle
45	chr5:178579800-178580000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:178579800-178580600	Strong transcription	Aorta	Aorta
47	chr5:178580000-178580800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:178580600-178581400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:178580600-178589000	Weak transcription	Aorta	Aorta
50	chr5:178580800-178582600	Weak transcription	Placenta Amnion	Placenta Amnion

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