Variant report

Variant	esv3430080
Chromosome Location	chr5:179963746-179967044
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	ATF2	chr5:179966866-179967742	GM12878	blood:	n/a	n/a
2	CTCF	chr5:179965785-179965830	ProgFib	skin:	n/a	n/a
3	E2F4	chr5:179964758-179964921	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr5:179964037-179964131	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr5:179966977-179967704	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:179965893-179966091	ProgFib	skin:	n/a	n/a
7	ZNF384	chr5:179966157-179966357	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250749	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77585564	chr5:179963753-179963754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192290528	chr5:179963760-179963761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529726193	chr5:179963806-179963807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9688010	chr5:179963890-179963891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546685024	chr5:179963972-179963973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560311058	chr5:179963999-179964000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368453532	chr5:179964000-179964001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149229109	chr5:179964013-179964014	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376054475	chr5:179964031-179964032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76597947	chr5:179964039-179964040	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs74828081	chr5:179964047-179964048	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529628047	chr5:179964112-179964113	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548922933	chr5:179964137-179964138	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568071699	chr5:179964169-179964170	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147939374	chr5:179964191-179964192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185255911	chr5:179964200-179964201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145285606	chr5:179964231-179964232	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375924644	chr5:179964232-179964233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570637410	chr5:179964275-179964276	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566212599	chr5:179964347-179964348	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540005475	chr5:179964400-179964401	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188126831	chr5:179964435-179964436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576583428	chr5:179964457-179964458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192875967	chr5:179964482-179964483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556114413	chr5:179964498-179964499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574458841	chr5:179964499-179964500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117882340	chr5:179964526-179964527	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560274389	chr5:179964527-179964528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528180199	chr5:179964555-179964556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147081221	chr5:179964589-179964590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375555239	chr5:179964674-179964675	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562496310	chr5:179964767-179964768	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531543448	chr5:179964785-179964786	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548045986	chr5:179964800-179964801	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376542323	chr5:179964804-179964805	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201684503	chr5:179964805-179964806	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs75838791	chr5:179964806-179964807	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370929646	chr5:179964818-179964819	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372688484	chr5:179964819-179964820	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79203954	chr5:179964820-179964821	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568033256	chr5:179964870-179964871	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558721949	chr5:179964877-179964878	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs527654512	chr5:179964907-179964908	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184598785	chr5:179964910-179964911	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs72812960	chr5:179964926-179964927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371735048	chr5:179964929-179964930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539503152	chr5:179964958-179964959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138729007	chr5:179964984-179964985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556629721	chr5:179964990-179964991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570118933	chr5:179964994-179964995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

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	chr5:179954000-179964400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:179954600-179964200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:179955600-179977600	Weak transcription	Colonic Mucosa	Colon
17	chr5:179956200-179963800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:179956200-179964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:179956200-179964800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:179956600-179964400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:179956600-179964400	Strong transcription	Fetal Muscle Leg	muscle
22	chr5:179956800-179964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:179957400-179964200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:179957400-179976800	Weak transcription	Osteobl	bone
25	chr5:179957600-179964200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:179957600-179965800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:179957600-179967200	Weak transcription	A549	lung
28	chr5:179957600-179967200	Weak transcription	NH-A	brain
29	chr5:179958200-179971000	Weak transcription	HUVEC	blood vessel
30	chr5:179958400-179964200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:179958600-179964000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:179958600-179964400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:179958800-179964400	Strong transcription	Thymus	Thymus
34	chr5:179958800-179964600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:179959000-179964000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr5:179959000-179964200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:179959000-179964200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:179959000-179964400	Strong transcription	Liver	Liver
39	chr5:179959000-179964400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:179959000-179964400	Strong transcription	Fetal Thymus	thymus
41	chr5:179959000-179964600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:179959000-179964800	Strong transcription	Dnd41	blood
43	chr5:179959000-179978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:179959200-179964400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:179959200-179964400	Strong transcription	Fetal Intestine Large	intestine
46	chr5:179959200-179964400	Strong transcription	Fetal Lung	lung
47	chr5:179959600-179975200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:179959600-179975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:179959800-179963800	Weak transcription	Adipose Nuclei	Adipose
50	chr5:179959800-179964000	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links