Variant report

Variant	rs28018
Chromosome Location	chr5:14429991-14429992
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10513179	0.98[ASN][1000 genomes]
rs187190	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs26187	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26188	1.00[ASN][1000 genomes]
rs27761	1.00[ASN][1000 genomes]
rs27939	0.98[ASN][1000 genomes]
rs30610	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs30611	0.87[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs30791	0.81[GIH][hapmap]
rs32476	0.98[ASN][1000 genomes]
rs358752	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs358753	0.98[ASN][1000 genomes]
rs382403	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs389729	0.87[CHD][hapmap]
rs42404	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs850589	0.98[ASN][1000 genomes]
rs890937	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
6	chr5:14416000-14430400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:14417200-14431600	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:14417800-14430800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:14418600-14431600	Strong transcription	GM12878-XiMat	blood
10	chr5:14419000-14432400	Strong transcription	NHLF	lung
11	chr5:14421200-14433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:14422200-14433600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14422200-14434800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14422200-14452200	Weak transcription	Thymus	Thymus
15	chr5:14422400-14433400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14422600-14433800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:14423400-14432600	Weak transcription	Fetal Kidney	kidney
18	chr5:14423600-14432000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:14423600-14432600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:14425000-14460800	Weak transcription	Primary T cells from cord blood	blood
21	chr5:14425600-14435200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:14425800-14445800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:14426000-14440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:14426200-14430200	Genic enhancers	HSMM	muscle
25	chr5:14426400-14437000	Weak transcription	HepG2	liver
26	chr5:14426600-14431400	Genic enhancers	Fetal Muscle Leg	muscle
27	chr5:14426800-14432400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:14426800-14432600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:14426800-14438400	Weak transcription	Hela-S3	cervix
30	chr5:14427400-14435800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:14427600-14430000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr5:14427600-14430200	Genic enhancers	NH-A	brain
33	chr5:14427800-14432000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:14427800-14432400	Weak transcription	Fetal Thymus	thymus
35	chr5:14427800-14439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:14427800-14440800	Weak transcription	Gastric	stomach
37	chr5:14428000-14430000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:14428000-14430000	Enhancers	Colon Smooth Muscle	Colon
39	chr5:14428000-14430200	Enhancers	Brain Hippocampus Middle	brain
40	chr5:14428000-14430200	Enhancers	Fetal Heart	heart
41	chr5:14428000-14430200	Enhancers	Fetal Lung	lung
42	chr5:14428000-14431200	Weak transcription	Aorta	Aorta
43	chr5:14428000-14435000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:14428000-14436200	Weak transcription	Spleen	Spleen
45	chr5:14428000-14441200	Weak transcription	Esophagus	oesophagus
46	chr5:14428000-14441400	Weak transcription	Placenta	Placenta
47	chr5:14428200-14430000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr5:14428200-14430200	Enhancers	Left Ventricle	heart
49	chr5:14428200-14431800	Weak transcription	A549	lung
50	chr5:14428200-14432400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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