Variant report

Variant	rs4705802
Chromosome Location	chr5:112526850-112526851
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10072487	0.82[MKK][hapmap];0.80[YRI][hapmap]
rs11739347	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1345077	0.84[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1345078	0.84[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1348433	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2044241	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2416314	0.88[ASW][hapmap];0.90[CEU][hapmap];0.90[LWK][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap]
rs2416315	0.80[LWK][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs2900071	0.81[CEU][hapmap]
rs6859190	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs6876116	0.87[TSI][hapmap]
rs6891544	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7717494	0.81[ASN][1000 genomes]
rs7719681	0.85[YRI][hapmap]
rs935163	0.84[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4705802	TSSK1B	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
3	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
4	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112522000-112538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112522600-112528200	Weak transcription	Fetal Lung	lung
7	chr5:112522600-112528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112522600-112530600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112522600-112534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:112522600-112535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112522600-112535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:112522800-112528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112522800-112535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112523000-112528600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:112524400-112528400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112524800-112531200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112524800-112531800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:112525400-112527400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112525400-112527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:112525600-112527400	Enhancers	Esophagus	oesophagus
22	chr5:112525600-112527800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:112525800-112530600	Weak transcription	Right Ventricle	heart
24	chr5:112525800-112533400	Weak transcription	Spleen	Spleen
25	chr5:112526200-112527000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112526200-112530200	Weak transcription	Left Ventricle	heart
27	chr5:112526400-112527000	Strong transcription	Fetal Heart	heart
28	chr5:112526400-112527200	Genic enhancers	Ovary	ovary
29	chr5:112526400-112527200	Enhancers	Right Atrium	heart
30	chr5:112526400-112527400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:112526400-112535000	Weak transcription	NH-A	brain
32	chr5:112526600-112528400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:112526600-112528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112526600-112531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112526600-112535000	Weak transcription	NHDF-Ad	bronchial
36	chr5:112526600-112535200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:112526800-112527000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr5:112526800-112527400	Enhancers	NHEK	skin
39	chr5:112526800-112527800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:112526800-112528000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:112526800-112529400	Weak transcription	Liver	Liver
42	chr5:112526800-112530600	Weak transcription	Lung	lung
43	chr5:112526800-112535000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:112526800-112535000	Weak transcription	HMEC	breast

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