Variant report

Variant	nsv823362
Chromosome Location	chr5:179289854-179290413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179290375-179290598	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:179290042-179290150	K562	blood:	n/a	n/a
3	POLR2A	chr5:179289839-179289994	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:179289962-179290106	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:179290371-179290821	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:179289998-179290162	A549	lung:	n/a	n/a
7	POLR2A	chr5:179289794-179289898	ProgFib	skin:	n/a	n/a
8	POLR2A	chr5:179289838-179290236	K562	blood:	n/a	n/a
9	POLR2A	chr5:179290020-179290089	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:179289978-179290223	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:179289973-179289975	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:179290093-179290147	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:179290394-179290411	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179290040..179292104-chr5:179300801..179303635,2	K562	blood:
2	chr5:179288672..179291374-chr5:179292378..179294390,2	MCF-7	breast:
3	chr5:179288966..179290772-chr5:179295721..179297520,3	MCF-7	breast:
4	chr5:179288312..179290452-chr5:179293485..179295109,2	MCF-7	breast:
5	chr5:179230087..179232097-chr5:179290171..179292438,2	K562	blood:
6	chr5:179289788..179295879-chr5:179298486..179302200,7	MCF-7	breast:

No data

Variant related genes	Relation type
C5orf45	TF binding region
ENSG00000161013	chromatin interactions
ENSG00000197226	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72551123	chr5:179289895-179289896	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569353445	chr5:179289897-179289898	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537035317	chr5:179289901-179289902	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147430845	chr5:179289902-179289903	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568710152	chr5:179289907-179289908	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563798740	chr5:179289962-179289963	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529519329	chr5:179289975-179289976	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs269452	chr5:179290007-179290008	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542946100	chr5:179290050-179290051	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs183655611	chr5:179290075-179290076	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111551367	chr5:179290106-179290107	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528512536	chr5:179290139-179290140	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9957	chr5:179290154-179290155	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs558272348	chr5:179290185-179290186	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576390538	chr5:179290251-179290252	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13354448	chr5:179290260-179290261	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73810204	chr5:179290282-179290283	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529152077	chr5:179290389-179290390	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372243043	chr5:179290405-179290406	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	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	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179286200-179310600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179286400-179303000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:179286600-179290400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:179286600-179290800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:179286600-179310600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:179286600-179310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:179286600-179311400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:179286800-179290400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:179287000-179290000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:179287200-179290400	Weak transcription	HMEC	breast
11	chr5:179287200-179296400	Weak transcription	HUVEC	blood vessel
12	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
13	chr5:179287400-179294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:179287600-179291000	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:179287600-179291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:179287800-179296800	Weak transcription	Fetal Heart	heart
17	chr5:179287800-179302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:179287800-179310000	Weak transcription	Fetal Brain Male	brain
19	chr5:179288400-179290200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr5:179288400-179291200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:179288400-179292400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:179288400-179292400	Strong transcription	HSMM	muscle
23	chr5:179288400-179308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:179288400-179308400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:179288400-179310600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:179288600-179290200	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:179288800-179290400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr5:179288800-179290800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:179288800-179291000	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr5:179288800-179292400	Strong transcription	A549	lung
31	chr5:179289000-179290000	ZNF genes & repeats	NH-A	brain
32	chr5:179289000-179290200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
33	chr5:179289000-179290200	Strong transcription	K562	blood
34	chr5:179289000-179290400	ZNF genes & repeats	Placenta	Placenta
35	chr5:179289000-179292000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:179289000-179292000	Strong transcription	Brain Anterior Caudate	brain
37	chr5:179289000-179294200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:179289000-179294400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:179289000-179294600	Strong transcription	Fetal Lung	lung
40	chr5:179289000-179295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:179289000-179295200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:179289000-179300400	Strong transcription	Osteobl	bone
43	chr5:179289000-179306800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr5:179289000-179307000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:179289000-179308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:179289000-179309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:179289200-179290200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:179289200-179290200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr5:179289200-179290200	Strong transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:179289200-179290400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links