Variant report

Variant	esv3376742
Chromosome Location	chr5:68578988-68579398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68577265..68579159-chr5:68664266..68665815,2	K562	blood:
2	chr5:68578435..68581520-chr5:68628697..68631760,4	MCF-7	breast:
3	chr5:68558474..68560530-chr5:68578996..68581239,2	MCF-7	breast:
4	chr5:68572340..68574718-chr5:68576377..68579078,3	K562	blood:

Variant related genes	Relation type
ENSG00000085231	chromatin interactions
ENSG00000152942	chromatin interactions
ENSG00000215006	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564825750	chr5:68579070-68579071	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs532214299	chr5:68579080-68579081	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs372269111	chr5:68579108-68579109	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562465192	chr5:68579140-68579141	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183082342	chr5:68579149-68579150	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs372718507	chr5:68579191-68579192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531593662	chr5:68579192-68579193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9885507	chr5:68579196-68579197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs71622282	chr5:68579200-68579201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34487969	chr5:68579204-68579205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13356824	chr5:68579208-68579209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151041537	chr5:68579230-68579231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369189180	chr5:68579237-68579238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565799692	chr5:68579238-68579239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140923199	chr5:68579245-68579246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186183485	chr5:68579248-68579249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112065490	chr5:68579254-68579255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367628794	chr5:68579257-68579258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191425406	chr5:68579260-68579261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539404130	chr5:68579268-68579269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558431235	chr5:68579269-68579270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139129765	chr5:68579280-68579281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544091117	chr5:68579282-68579283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562735378	chr5:68579285-68579286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551483664	chr5:68579289-68579290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7729799	chr5:68579298-68579299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560250143	chr5:68579320-68579321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527287329	chr5:68579327-68579328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376758211	chr5:68579333-68579334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564644046	chr5:68579335-68579336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532068301	chr5:68579336-68579337	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569659594	chr5:68579337-68579338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550188130	chr5:68579338-68579339	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568687569	chr5:68579342-68579343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536641149	chr5:68579343-68579344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547492822	chr5:68579384-68579385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572884685	chr5:68579385-68579386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
4	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:68552000-68581200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:68552200-68580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:68552200-68588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:68553000-68581400	Weak transcription	Psoas Muscle	Psoas
10	chr5:68553800-68587800	Weak transcription	Colonic Mucosa	Colon
11	chr5:68554200-68604400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:68559000-68583400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:68559200-68581200	Weak transcription	Fetal Kidney	kidney
14	chr5:68559600-68584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:68562600-68584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:68563000-68585200	Strong transcription	Liver	Liver
17	chr5:68564200-68611200	Weak transcription	Fetal Brain Male	brain
18	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:68566000-68591000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:68566800-68610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:68569400-68582000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:68571600-68579000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:68571600-68579800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:68571600-68581600	Strong transcription	Fetal Thymus	thymus
25	chr5:68573000-68587800	Weak transcription	Hela-S3	cervix
26	chr5:68573000-68590600	Weak transcription	HUVEC	blood vessel
27	chr5:68573200-68585600	Strong transcription	Fetal Intestine Small	intestine
28	chr5:68573800-68580400	Weak transcription	NHDF-Ad	bronchial
29	chr5:68574000-68585000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:68574800-68581200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:68575000-68579000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:68575400-68581600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:68575600-68584200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:68575600-68605000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:68575600-68608200	Weak transcription	Right Ventricle	heart
36	chr5:68576000-68583800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:68576000-68584200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:68576000-68605200	Weak transcription	Left Ventricle	heart
39	chr5:68576200-68584200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:68576200-68590600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:68576200-68605200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:68576200-68609400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:68576400-68581200	Weak transcription	GM12878-XiMat	blood
44	chr5:68576400-68581400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:68576400-68581600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:68576400-68581600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:68576400-68583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:68576400-68583800	Weak transcription	Fetal Lung	lung
49	chr5:68576400-68584000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:68576400-68591000	Weak transcription	Muscle Satellite Cultured Cells	--

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