Variant report

Variant	esv3382022
Chromosome Location	chr5:106833890-106834413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531780781	chr5:106833897-106833898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62355578	chr5:106833906-106833907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529285886	chr5:106833917-106833918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551131962	chr5:106834011-106834012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73197062	chr5:106834014-106834015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547988919	chr5:106834023-106834024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115498134	chr5:106834025-106834026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530661179	chr5:106834079-106834080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540005224	chr5:106834106-106834107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531936871	chr5:106834123-106834124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555878799	chr5:106834155-106834156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186014326	chr5:106834166-106834167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143424393	chr5:106834178-106834179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535087143	chr5:106834189-106834190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191287592	chr5:106834268-106834269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572322601	chr5:106834270-106834271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150928265	chr5:106834287-106834288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558012367	chr5:106834291-106834292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183250222	chr5:106834320-106834321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72789632	chr5:106834363-106834364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562971967	chr5:106834379-106834380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:106820600-106838200	Weak transcription	Fetal Brain Male	brain
3	chr5:106823000-106834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:106823000-106837600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:106823200-106837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:106823400-106835400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:106823600-106834400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:106823600-106837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:106823800-106834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:106823800-106834200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:106823800-106835000	Weak transcription	A549	lung
12	chr5:106825800-106835400	Weak transcription	HUVEC	blood vessel
13	chr5:106826600-106838400	Weak transcription	Left Ventricle	heart
14	chr5:106828600-106834200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:106829600-106834000	Weak transcription	Stomach Mucosa	stomach
16	chr5:106829600-106834200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:106829600-106834400	Weak transcription	Fetal Heart	heart
18	chr5:106829600-106837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:106829800-106835800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:106830600-106837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:106832600-106834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:106832600-106837800	Weak transcription	HSMM	muscle
23	chr5:106833000-106834000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:106833200-106835000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:106833200-106839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:106833400-106834400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:106833600-106834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:106834000-106834800	Enhancers	Stomach Mucosa	stomach
29	chr5:106834000-106836400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:106834000-106836800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:106834000-106837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:106834200-106834400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:106834200-106834400	Enhancers	HMEC	breast
34	chr5:106834200-106834600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:106834200-106835800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:106834200-106836800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:106834200-106836800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:106834200-106837000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:106834200-106837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:106834200-106838200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:106834200-106840400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:106834400-106834600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:106834400-106835000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:106834400-106836200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:106834400-106836200	Enhancers	Fetal Heart	heart
46	chr5:106834400-106836600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:106834400-106840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:106834400-106848600	Weak transcription	HMEC	breast

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