Variant report

Variant	esv1846245
Chromosome Location	chr5:127170643-127173217
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	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:
2	chr5:127172554..127175217-chr5:127418904..127421266,2	K562	blood:

Variant related genes	Relation type
ENSG00000064651	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151849	chr5:127170643-127170644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185870674	chr5:127170668-127170669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189943732	chr5:127170673-127170674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73347046	chr5:127170691-127170692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186070659	chr5:127170705-127170706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115003190	chr5:127170764-127170765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201811929	chr5:127170823-127170824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35086862	chr5:127170824-127170825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397882396	chr5:127170828-127170829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190889181	chr5:127170882-127170883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151884	chr5:127170893-127170894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542001223	chr5:127170912-127170913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561931191	chr5:127170944-127170945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556551321	chr5:127170952-127170953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527754092	chr5:127170983-127170984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541490848	chr5:127171026-127171027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564455469	chr5:127171051-127171052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77954662	chr5:127171138-127171139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549810736	chr5:127171216-127171217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569968625	chr5:127171219-127171220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151153735	chr5:127171220-127171221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549130335	chr5:127171240-127171241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182912124	chr5:127171267-127171268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534935374	chr5:127171278-127171279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547454602	chr5:127171292-127171293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140101188	chr5:127171308-127171309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150284506	chr5:127171326-127171327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36040875	chr5:127171351-127171352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556200565	chr5:127171374-127171375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576366961	chr5:127171408-127171409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368253959	chr5:127171409-127171410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572152663	chr5:127171558-127171559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187784765	chr5:127171598-127171599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192531618	chr5:127171620-127171621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372545826	chr5:127171636-127171637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182893323	chr5:127171648-127171649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114591648	chr5:127171674-127171675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187660502	chr5:127171849-127171850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577718972	chr5:127171934-127171935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541101966	chr5:127171940-127171941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs245200	chr5:127171941-127171942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563356432	chr5:127171942-127171943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55876185	chr5:127171966-127171967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549631865	chr5:127172008-127172009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559830488	chr5:127172022-127172023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528676771	chr5:127172048-127172049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192912759	chr5:127172104-127172105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570518126	chr5:127172145-127172146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184899236	chr5:127172150-127172151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549771361	chr5:127172172-127172173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127169600-127171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:127169600-127171200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:127169600-127171200	Enhancers	HSMM	muscle
4	chr5:127170000-127170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:127170000-127171200	Enhancers	Fetal Kidney	kidney
6	chr5:127170200-127171200	Enhancers	Adipose Nuclei	Adipose
7	chr5:127170200-127172000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127170200-127174400	Weak transcription	NHDF-Ad	bronchial
9	chr5:127170400-127170800	Weak transcription	HSMMtube	muscle
10	chr5:127170400-127171600	Enhancers	Ovary	ovary
11	chr5:127170400-127173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:127170600-127170800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:127170600-127171800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:127170800-127171400	Enhancers	HSMMtube	muscle
16	chr5:127170800-127174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:127171000-127172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:127171200-127172000	Weak transcription	HSMM	muscle
19	chr5:127171200-127174400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:127171200-127174400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:127171400-127174400	Weak transcription	HSMMtube	muscle
22	chr5:127172000-127172200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127172200-127174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:127172400-127173000	Weak transcription	HSMM	muscle
25	chr5:127173200-127174200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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