Variant report

Variant	esv1829983
Chromosome Location	chr5:97394232-97402664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 248 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35234947	chr5:97395806-97395807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139946269	chr5:97395824-97395825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537817891	chr5:97395828-97395829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555919124	chr5:97395871-97395872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376036973	chr5:97395936-97395937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574465205	chr5:97395938-97395939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535243683	chr5:97395942-97395943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537124019	chr5:97395948-97395949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370356370	chr5:97396055-97396056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143422966	chr5:97396076-97396077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs365567	chr5:97396119-97396120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376807	chr5:97396124-97396125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539769742	chr5:97396139-97396140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370357501	chr5:97396193-97396194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576359688	chr5:97396208-97396209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34471181	chr5:97396225-97396226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115721969	chr5:97396236-97396237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561985290	chr5:97396295-97396296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529339596	chr5:97396311-97396312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541173187	chr5:97396362-97396363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72767634	chr5:97396375-97396376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs257214	chr5:97396419-97396420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34590346	chr5:97396437-97396438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570742997	chr5:97396459-97396460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371021558	chr5:97396476-97396477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531677450	chr5:97396528-97396529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549746675	chr5:97396537-97396538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561788617	chr5:97396560-97396561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75276458	chr5:97396570-97396571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567967632	chr5:97396595-97396596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190587050	chr5:97396684-97396685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182724449	chr5:97396693-97396694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34089955	chr5:97396709-97396710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185828732	chr5:97396742-97396743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191073658	chr5:97396778-97396779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183962295	chr5:97396790-97396791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187710871	chr5:97396854-97396855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146242613	chr5:97396865-97396866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192579293	chr5:97396871-97396872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555690014	chr5:97396937-97396938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573964377	chr5:97396943-97396944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10476731	chr5:97396944-97396945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541112718	chr5:97397025-97397026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559569564	chr5:97397030-97397031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533498003	chr5:97397103-97397104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116669447	chr5:97397108-97397109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142864183	chr5:97397190-97397191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565163583	chr5:97397241-97397242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531633781	chr5:97397271-97397272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57735563	chr5:97397273-97397274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97395800-97396200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:97395800-97396200	Enhancers	Dnd41	blood
3	chr5:97396200-97398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:97398600-97401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:97399000-97399200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:97399200-97400200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:97399200-97401400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:97399400-97400400	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:97399800-97400200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:97399800-97400600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:97400000-97400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:97400000-97400400	Enhancers	Brain Germinal Matrix	brain
13	chr5:97400000-97401400	Enhancers	Brain Substantia Nigra	brain
14	chr5:97400200-97400400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:97400200-97400800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97400200-97401400	Enhancers	NHDF-Ad	bronchial
17	chr5:97400200-97401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:97400800-97401400	Enhancers	Brain Hippocampus Middle	brain
19	chr5:97400800-97404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:97401200-97401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:97401200-97401600	Enhancers	Osteobl	bone
22	chr5:97401400-97402800	Weak transcription	NHDF-Ad	bronchial
23	chr5:97401600-97402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:97402600-97403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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