Variant report

Variant	rs2217075
Chromosome Location	chr18:28826698-28826699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2912316	0.84[CEU][hapmap];0.83[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes]
rs2912318	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2912320	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2912322	0.93[EUR][1000 genomes]
rs2912323	0.96[EUR][1000 genomes]
rs2919981	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2919982	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60538176	0.87[AMR][1000 genomes];0.81[EUR][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	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2217075	TTR	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28820600-28828000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr18:28822200-28826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:28824200-28827000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:28824200-28827600	Weak transcription	Pancreas	Pancrea
5	chr18:28824800-28830200	Weak transcription	Left Ventricle	heart
6	chr18:28825000-28826800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:28825200-28835400	Weak transcription	Right Atrium	heart
8	chr18:28825400-28827400	Weak transcription	Liver	Liver
9	chr18:28825400-28828000	Enhancers	GM12878-XiMat	blood
10	chr18:28825800-28827600	Weak transcription	A549	lung
11	chr18:28826000-28826800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:28826000-28826800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:28826000-28826800	Weak transcription	Hela-S3	cervix
14	chr18:28826000-28827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:28826000-28827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:28826000-28829000	Weak transcription	NH-A	brain
17	chr18:28826000-28831000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:28826200-28827400	Weak transcription	HMEC	breast
19	chr18:28826200-28827600	Weak transcription	Fetal Intestine Small	intestine
20	chr18:28826200-28827600	Weak transcription	NHEK	skin
21	chr18:28826200-28828800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:28826200-28830200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:28826400-28827000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:28826600-28827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:28826600-28827600	Weak transcription	Fetal Intestine Large	intestine
26	chr18:28826600-28827600	Weak transcription	Fetal Kidney	kidney
27	chr18:28826600-28827800	Weak transcription	HepG2	liver
28	chr18:28826600-28828000	Enhancers	Placenta Amnion	Placenta Amnion

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