Variant report

Variant	esv999288
Chromosome Location	chr5:97926959-97940484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:97927782..97929943-chr5:97931809..97933564,2	K562	blood:
2	chr5:97927782..97929943-chr5:97931809..97933564,2	K562	blood:
3	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:
4	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:

Extended variants
information (count: 541 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192528761	chr5:97927000-97927001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184760768	chr5:97927031-97927032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186857247	chr5:97927032-97927033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549537308	chr5:97927075-97927076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527663394	chr5:97927094-97927095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567767709	chr5:97927100-97927101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192629090	chr5:97927111-97927112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541561380	chr5:97927200-97927201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184240570	chr5:97927220-97927221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539388606	chr5:97927265-97927266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558012680	chr5:97927296-97927297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576001405	chr5:97927297-97927298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536640466	chr5:97927298-97927299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200919848	chr5:97927316-97927317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189993937	chr5:97927323-97927324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181252553	chr5:97927341-97927342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559731312	chr5:97927362-97927363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578107197	chr5:97927384-97927385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185359	chr5:97927403-97927404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563995852	chr5:97927408-97927409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199507862	chr5:97927428-97927429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543043997	chr5:97927430-97927431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13153830	chr5:97927463-97927464	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs573576237	chr5:97927473-97927474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201523444	chr5:97927498-97927499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533375353	chr5:97927525-97927526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146401976	chr5:97927537-97927538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369414052	chr5:97927541-97927542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565767441	chr5:97927548-97927549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377298666	chr5:97927568-97927569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs154202	chr5:97927583-97927584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184492004	chr5:97927616-97927617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113561925	chr5:97927621-97927622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550895740	chr5:97927648-97927649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529168588	chr5:97927672-97927673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114330209	chr5:97927678-97927679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188743364	chr5:97927683-97927684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539079367	chr5:97927706-97927707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11340709	chr5:97927707-97927708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200220688	chr5:97927716-97927717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567536292	chr5:97927719-97927720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72771767	chr5:97927720-97927721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534439214	chr5:97927790-97927791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553028855	chr5:97927822-97927823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181899487	chr5:97927845-97927846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79463468	chr5:97927867-97927868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80018667	chr5:97927890-97927891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72771768	chr5:97927906-97927907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557225118	chr5:97927921-97927922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576027665	chr5:97927931-97927932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97921800-97927000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:97926400-97928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97928600-97928800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97928800-97929800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:97928800-97930200	Enhancers	Dnd41	blood
6	chr5:97929000-97929600	Enhancers	HUVEC	blood vessel
7	chr5:97929000-97930200	Enhancers	Fetal Intestine Large	intestine
8	chr5:97929200-97929400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr5:97929200-97929400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr5:97929800-97930200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:97930200-97931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:97931200-97932400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:97932400-97933800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:97933800-97939600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:97937800-97938600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:97938000-97938400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:97938400-97940000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:97938600-97940000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:97939600-97940000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:97939800-97940800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:97939800-97941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:97939800-97941200	Enhancers	NHDF-Ad	bronchial
23	chr5:97939800-97942000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:97940000-97940400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:97940000-97940400	Enhancers	HSMMtube	muscle
26	chr5:97940000-97940600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:97940000-97940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:97940000-97941000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:97940000-97941000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:97940000-97941000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:97940000-97941200	Enhancers	Osteobl	bone
32	chr5:97940000-97942000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:97940000-97942200	Enhancers	Fetal Intestine Small	intestine
34	chr5:97940000-97943000	Enhancers	Fetal Intestine Large	intestine
35	chr5:97940200-97940600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:97940200-97940800	Enhancers	HSMM	muscle
37	chr5:97940200-97941000	Enhancers	NHLF	lung
38	chr5:97940200-97941200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:97940200-97941200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:97940200-97941400	Enhancers	NH-A	brain
41	chr5:97940400-97940600	Flanking Active TSS	HSMMtube	muscle
42	chr5:97940400-97941000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:97940400-97941000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:97940400-97941000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:97940400-97941000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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