Variant report

Variant	rs4704706
Chromosome Location	chr5:80499626-80499627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80483229..80485055-chr5:80499314..80501260,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10038237	0.91[ASN][1000 genomes]
rs12653043	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16878528	0.80[JPT][hapmap]
rs28539026	0.93[ASN][1000 genomes]
rs57866770	0.85[ASN][1000 genomes]
rs6453542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6876160	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6890464	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6890619	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4704706	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs4704706	CTC-281B15.1	cis	Artery Tibial	GTEx
rs4704706	CTC-281B15.1	cis	Thyroid	GTEx
rs4704706	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4704706	CCDC136	trans	cerebellum	SCAN
rs4704706	CTC-281B15.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80464200-80528400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:80465200-80528200	Weak transcription	Ovary	ovary
3	chr5:80466000-80512600	Weak transcription	Gastric	stomach
4	chr5:80485200-80516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:80491000-80502000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:80491000-80505600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:80491000-80508600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:80491000-80520200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:80491000-80528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:80491200-80504600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:80491200-80505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:80491200-80530000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80491400-80505400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:80491400-80528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:80491600-80500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:80491600-80505400	Weak transcription	NHLF	lung
17	chr5:80491600-80505800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:80491800-80504800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:80491800-80505000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:80492000-80510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:80492000-80528600	Weak transcription	Left Ventricle	heart
22	chr5:80496400-80511000	Strong transcription	Primary T cells from cord blood	blood
23	chr5:80496600-80500000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:80496600-80500000	Strong transcription	HepG2	liver
25	chr5:80496600-80500400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:80496600-80513200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:80496800-80501000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:80497000-80499800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:80497000-80517000	Weak transcription	Right Atrium	heart
30	chr5:80497200-80500200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:80497400-80500000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:80497600-80499800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:80498000-80528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:80498200-80504800	Weak transcription	Brain Substantia Nigra	brain
35	chr5:80498600-80501400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:80498600-80502600	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:80498800-80503200	Weak transcription	Adipose Nuclei	Adipose
38	chr5:80498800-80530000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:80499400-80501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:80499600-80499800	Enhancers	GM12878-XiMat	blood
41	chr5:80499600-80500000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:80499600-80500000	Enhancers	Fetal Intestine Small	intestine

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