Variant report

Variant	esv3432423
Chromosome Location	chr5:146961010-146961558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112282172	chr5:146961051-146961052	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530320382	chr5:146961052-146961053	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185809774	chr5:146961055-146961056	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191103650	chr5:146961062-146961063	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200991423	chr5:146961076-146961077	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145356602	chr5:146961096-146961097	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546551454	chr5:146961106-146961107	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs17106906	chr5:146961115-146961116	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113284503	chr5:146961152-146961153	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538694293	chr5:146961160-146961161	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113554406	chr5:146961164-146961165	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149155285	chr5:146961176-146961177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142360760	chr5:146961254-146961255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536036803	chr5:146961304-146961305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376855866	chr5:146961309-146961310	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554384526	chr5:146961310-146961311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573079104	chr5:146961407-146961408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558037807	chr5:146961431-146961432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540177685	chr5:146961449-146961450	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536460148	chr5:146961450-146961451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151241710	chr5:146961499-146961500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577177860	chr5:146961501-146961502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371268192	chr5:146961532-146961533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146954600-146974000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:146954800-146973800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:146957000-146996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:146957600-146963400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:146957800-147038000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:146958000-146962200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:146958000-146973600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:146958200-146972200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:146958200-146972400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:146958600-146969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:146959400-146961200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:146959400-146961200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr5:146960400-146961200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:146960400-146970400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:146960600-146961800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:146960600-146963400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:146960800-146961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:146961000-146970200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:146961200-146961800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:146961200-146962600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:146961200-146962800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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