Variant report

Variant	esv1787252
Chromosome Location	chr5:179961973-179962071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr5:179961592-179962046	HepG2	liver:	n/a	n/a
2	PAX5	chr5:179961552-179962132	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:179961574-179962077	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:179961532-179962136	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:179961595-179962089	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:179961525-179962156	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:179961626-179962068	A549	lung:	n/a	n/a
8	POLR2A	chr5:179961609-179962089	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:179961563-179962149	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:179961594-179962072	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:179961592-179962165	GM12891	blood:	n/a	n/a
12	POU2F2	chr5:179961523-179962148	GM12878	blood:	n/a	n/a
13	REST	chr5:179961623-179962066	U87	brain:	n/a	n/a
14	SRF	chr5:179961617-179962068	GM12878	blood:	n/a	n/a
15	TCF3	chr5:179961494-179962137	GM12878	blood:	n/a	n/a
16	USF1	chr5:179961562-179962082	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250749	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113104389	chr5:179961980-179961981	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111391948	chr5:179961993-179961994	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35140643	chr5:179962002-179962003	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113855037	chr5:179962010-179962011	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111574240	chr5:179962042-179962043	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs112524122	chr5:179962051-179962052	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111228373	chr5:179962059-179962060	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs13155576	chr5:179962071-179962072	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950200-179975200	Weak transcription	Psoas Muscle	Psoas
2	chr5:179950200-179984400	Weak transcription	NHDF-Ad	bronchial
3	chr5:179950200-179992000	Weak transcription	Right Ventricle	heart
4	chr5:179950400-179992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:179951000-179991800	Weak transcription	Small Intestine	intestine
7	chr5:179951600-179967000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:179952400-179969000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:179952800-179967200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:179952800-179975400	Weak transcription	Stomach Mucosa	stomach
11	chr5:179953400-179975200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:179953600-179977000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:179953800-179975400	Weak transcription	Fetal Heart	heart
14	chr5:179954000-179962600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:179954000-179964400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:179954600-179964200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:179955600-179962800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:179955600-179977600	Weak transcription	Colonic Mucosa	Colon
19	chr5:179956200-179962800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:179956200-179963800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:179956200-179964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:179956200-179964800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:179956400-179962800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179956600-179962400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:179956600-179964400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:179956600-179964400	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:179956800-179964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179957000-179962200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:179957000-179962400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:179957400-179964200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:179957400-179976800	Weak transcription	Osteobl	bone
32	chr5:179957600-179964200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179957600-179965800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:179957600-179967200	Weak transcription	A549	lung
35	chr5:179957600-179967200	Weak transcription	NH-A	brain
36	chr5:179958200-179962200	Strong transcription	Fetal Stomach	stomach
37	chr5:179958200-179971000	Weak transcription	HUVEC	blood vessel
38	chr5:179958400-179964200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:179958600-179962600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:179958600-179964000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:179958600-179964400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:179958800-179962800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:179958800-179964400	Strong transcription	Thymus	Thymus
44	chr5:179958800-179964600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:179959000-179962200	Strong transcription	Fetal Intestine Small	intestine
46	chr5:179959000-179962400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:179959000-179962600	Strong transcription	Primary T cells from cord blood	blood
48	chr5:179959000-179962600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr5:179959000-179962800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:179959000-179962800	Strong transcription	Primary hematopoietic stem cells	blood

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