Variant report

Variant	esv1821238
Chromosome Location	chr5:97383980-97402715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 425 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368339571	chr5:97383980-97383981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543106925	chr5:97383986-97383987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73141620	chr5:97384001-97384002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140314126	chr5:97384017-97384018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569342680	chr5:97384083-97384084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142046877	chr5:97384125-97384126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559323591	chr5:97384202-97384203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533250007	chr5:97384229-97384230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368541782	chr5:97384265-97384266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151222622	chr5:97384322-97384323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34540086	chr5:97384345-97384346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78221298	chr5:97384391-97384392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181293369	chr5:97384436-97384437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566197996	chr5:97384458-97384459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183923530	chr5:97384475-97384476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75502259	chr5:97384489-97384490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139177347	chr5:97384519-97384520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552885779	chr5:97384569-97384570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139596916	chr5:97384622-97384623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566999744	chr5:97384623-97384624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59113507	chr5:97384627-97384628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534447266	chr5:97384635-97384636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs474237	chr5:97384658-97384659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575160881	chr5:97384672-97384673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553523354	chr5:97384728-97384729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149941765	chr5:97384742-97384743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539274482	chr5:97384752-97384753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367858140	chr5:97384759-97384760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544825632	chr5:97384760-97384761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201027946	chr5:97384761-97384762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575677773	chr5:97384777-97384778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543068162	chr5:97384787-97384788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190303139	chr5:97384800-97384801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573363872	chr5:97384881-97384882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540415728	chr5:97384885-97384886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559449099	chr5:97384931-97384932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73141622	chr5:97385007-97385008	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181567515	chr5:97385015-97385016	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62368485	chr5:97385019-97385020	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574152811	chr5:97385079-97385080	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118083434	chr5:97385124-97385125	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548552526	chr5:97385175-97385176	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73772562	chr5:97385184-97385185	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187428370	chr5:97385204-97385205	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528730795	chr5:97385217-97385218	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546381157	chr5:97385232-97385233	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192095900	chr5:97385267-97385268	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555699609	chr5:97385270-97385271	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538877740	chr5:97385273-97385274	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145044600	chr5:97385282-97385283	Active TSS Weak transcription Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97378800-97384000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97384000-97385000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97384400-97385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:97384400-97388800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:97385000-97385200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:97385000-97385400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:97385200-97385600	Enhancers	Stomach Mucosa	stomach
8	chr5:97385400-97387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:97385600-97386000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:97386000-97387000	Enhancers	HMEC	breast
11	chr5:97386000-97387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:97386200-97386400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:97386400-97386800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:97386800-97387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:97387200-97387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:97387200-97388200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:97395800-97396200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:97395800-97396200	Enhancers	Dnd41	blood
19	chr5:97396200-97398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:97398600-97401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:97399000-97399200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:97399200-97400200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:97399200-97401400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:97399400-97400400	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:97399800-97400200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:97399800-97400600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:97400000-97400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:97400000-97400400	Enhancers	Brain Germinal Matrix	brain
29	chr5:97400000-97401400	Enhancers	Brain Substantia Nigra	brain
30	chr5:97400200-97400400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr5:97400200-97400800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:97400200-97401400	Enhancers	NHDF-Ad	bronchial
33	chr5:97400200-97401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:97400800-97401400	Enhancers	Brain Hippocampus Middle	brain
35	chr5:97400800-97404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:97401200-97401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:97401200-97401600	Enhancers	Osteobl	bone
38	chr5:97401400-97402800	Weak transcription	NHDF-Ad	bronchial
39	chr5:97401600-97402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:97402600-97403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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