Variant report

Variant	rs306578
Chromosome Location	chr5:94053166-94053167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10037940	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10039102	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10039797	0.84[EUR][1000 genomes]
rs10052066	0.88[EUR][1000 genomes]
rs10062402	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10072894	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10078522	0.86[EUR][1000 genomes]
rs10476614	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1124667	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1451734	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1549179	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2112448	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2112449	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2636	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2638	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs306574	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs306580	0.91[ASN][1000 genomes]
rs421521	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs432449	0.96[ASN][1000 genomes]
rs6556849	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs747880	0.88[EUR][1000 genomes]
rs755899	0.86[EUR][1000 genomes]
rs7709494	0.88[EUR][1000 genomes]
rs7735924	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs306578	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs306578	MCTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94012600-94053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:94039000-94064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:94043800-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:94047200-94055200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:94048600-94071600	Weak transcription	Lung	lung
6	chr5:94048600-94081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:94049400-94053200	Weak transcription	Left Ventricle	heart
8	chr5:94049400-94053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:94049400-94056400	Weak transcription	Aorta	Aorta
10	chr5:94049400-94081400	Weak transcription	HUVEC	blood vessel
11	chr5:94049800-94077600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:94050600-94053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:94050600-94065400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:94050600-94069000	Weak transcription	Hela-S3	cervix
15	chr5:94051000-94055200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:94051000-94067800	Weak transcription	Fetal Thymus	thymus
17	chr5:94052400-94079600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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