Variant report

Variant	rs56943665
Chromosome Location	chr5:68415902-68415903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10434546	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10434547	0.86[EUR][1000 genomes]
rs10940200	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35222703	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35501479	0.97[EUR][1000 genomes]
rs35884229	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926188	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871891	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880864	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887331	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703077	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
2	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
4	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
11	chr5:68399000-68421400	Strong transcription	Osteobl	bone
12	chr5:68399000-68422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
15	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
16	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:68402600-68429600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:68402800-68427400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:68403000-68425600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:68403600-68426400	Weak transcription	Small Intestine	intestine
21	chr5:68405800-68417600	Weak transcription	Gastric	stomach
22	chr5:68405800-68421800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:68406000-68417400	Weak transcription	Brain Substantia Nigra	brain
24	chr5:68406000-68417400	Weak transcription	Pancreas	Pancrea
25	chr5:68406000-68417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:68406000-68418800	Weak transcription	Fetal Brain Male	brain
27	chr5:68406000-68419200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:68406000-68427400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:68406000-68430000	Strong transcription	Liver	Liver
30	chr5:68406200-68416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:68406200-68417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:68406200-68417400	Weak transcription	Fetal Kidney	kidney
33	chr5:68406200-68419000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:68406200-68422200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:68406200-68425400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
37	chr5:68406400-68431600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:68407400-68425600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:68407600-68423800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:68407800-68425800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:68408200-68417600	Weak transcription	Right Ventricle	heart
42	chr5:68408200-68426400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:68408200-68426600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:68408400-68425800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr5:68408600-68419600	Strong transcription	NHDF-Ad	bronchial
46	chr5:68408800-68419200	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:68409600-68427600	Strong transcription	Fetal Intestine Large	intestine
48	chr5:68409800-68416400	Strong transcription	Brain Anterior Caudate	brain
49	chr5:68410400-68431800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:68411400-68417400	Weak transcription	Esophagus	oesophagus

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