Variant report

Variant	esv8777
Chromosome Location	chr5:154016328-154024317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:153847325..153847873-chr5:154019714..154020571,2	K562	blood:
2	chr5:154022139..154022699-chr5:154429086..154429625,2	K562	blood:
3	chr5:154021774..154022634-chr5:154191161..154192038,3	K562	blood:
4	chr5:154023772..154028436-chr5:154235894..154238636,6	K562	blood:
5	chr5:154022268..154025910-chr5:154191437..154193998,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155508	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201903844	chr5:154016354-154016355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112686648	chr5:154016373-154016374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180884523	chr5:154016443-154016444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372201753	chr5:154016457-154016458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186131141	chr5:154016481-154016482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529186092	chr5:154016496-154016497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548961442	chr5:154016501-154016502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116185429	chr5:154016506-154016507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371462366	chr5:154016562-154016563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112150911	chr5:154016565-154016566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551389446	chr5:154016590-154016591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571391761	chr5:154016596-154016597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189407118	chr5:154016597-154016598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184140812	chr5:154016649-154016650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140253626	chr5:154016652-154016653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58540401	chr5:154016672-154016673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574102659	chr5:154016674-154016675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181406407	chr5:154016697-154016698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111563544	chr5:154016703-154016704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113513129	chr5:154016729-154016730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149961146	chr5:154016761-154016762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145062161	chr5:154016871-154016872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200299718	chr5:154016900-154016901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577804746	chr5:154016904-154016905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558317923	chr5:154016905-154016906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371754140	chr5:154016914-154016915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190717110	chr5:154016969-154016970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115279813	chr5:154017022-154017023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182912866	chr5:154017115-154017116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549176380	chr5:154017158-154017159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559358388	chr5:154017178-154017179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528419687	chr5:154017234-154017235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551352374	chr5:154017258-154017259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571353543	chr5:154017264-154017265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532066346	chr5:154017267-154017268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550605169	chr5:154017269-154017270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537048903	chr5:154017270-154017271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11524117	chr5:154017298-154017299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550618368	chr5:154017340-154017341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545097562	chr5:154017420-154017421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567762402	chr5:154017452-154017453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141091429	chr5:154017554-154017555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114426445	chr5:154017555-154017556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187348321	chr5:154020034-154020035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192651791	chr5:154020043-154020044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185618781	chr5:154020048-154020049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566375334	chr5:154020249-154020250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554816271	chr5:154020266-154020267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574667397	chr5:154020293-154020294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375528860	chr5:154020376-154020377	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	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
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154010800-154016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:154016400-154016600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:154016600-154017400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:154017000-154017400	Enhancers	Adipose Nuclei	Adipose
5	chr5:154017400-154017600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:154020000-154021000	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:154020200-154025400	Enhancers	Liver	Liver
8	chr5:154020400-154025200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:154021000-154023000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:154022000-154023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:154022200-154022600	Enhancers	K562	blood
12	chr5:154022200-154026600	Enhancers	HepG2	liver
13	chr5:154022600-154026600	Weak transcription	K562	blood
14	chr5:154023000-154023200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:154023000-154023400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr5:154023400-154026200	Weak transcription	Duodenum Mucosa	Duodenum

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