Variant report

Variant	rs1348431
Chromosome Location	chr5:112521347-112521348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112519720..112522238-chr5:112522519..112525224,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10057729	1.00[JPT][hapmap]
rs11739347	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs11952815	0.85[JPT][hapmap]
rs12658162	0.91[EUR][1000 genomes]
rs13153785	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1345077	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs1345078	0.90[CEU][hapmap];0.92[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2044241	0.90[CEU][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs2416313	0.90[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2416314	0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs2900071	0.95[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs7718971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs935163	0.90[CEU][hapmap];0.83[GIH][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
2	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112513000-112521400	Weak transcription	NHEK	skin
7	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112515000-112522200	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112515200-112521600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:112515200-112526400	Weak transcription	Lung	lung
11	chr5:112515400-112521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112515600-112521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:112515600-112521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:112515600-112521800	Weak transcription	Liver	Liver
15	chr5:112515800-112521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
17	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
18	chr5:112516000-112521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:112516000-112521800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:112516400-112524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:112517000-112521400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:112517600-112525000	Enhancers	Ovary	ovary
23	chr5:112518600-112525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:112518800-112521600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:112519000-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:112519600-112521800	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:112519600-112521800	Weak transcription	Right Atrium	heart
29	chr5:112519600-112523000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:112520400-112524800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:112520600-112525800	Enhancers	Fetal Heart	heart
32	chr5:112520800-112524000	Enhancers	Right Ventricle	heart
33	chr5:112521000-112521400	Weak transcription	Left Ventricle	heart
34	chr5:112521000-112522800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112521000-112522800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:112521000-112524400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:112521200-112521800	Enhancers	Stomach Smooth Muscle	stomach
38	chr5:112521200-112522800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:112521200-112523000	Enhancers	Brain Germinal Matrix	brain
40	chr5:112521200-112524400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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