Variant report

Variant	rs2104642
Chromosome Location	chr9:97165834-97165835
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10993177	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10993182	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993186	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993188	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11525963	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12236578	0.81[EUR][1000 genomes]
rs12238822	0.83[EUR][1000 genomes]
rs1752784	0.83[ASN][1000 genomes]
rs2769805	0.86[ASN][1000 genomes]
rs2769813	0.90[ASN][1000 genomes]
rs2809768	0.80[ASN][1000 genomes]
rs28784720	0.80[EUR][1000 genomes]
rs2993948	0.84[ASN][1000 genomes]
rs3118790	0.90[ASN][1000 genomes]
rs4744338	0.90[ASN][1000 genomes]
rs56062008	0.80[EUR][1000 genomes]
rs56074891	0.80[EUR][1000 genomes]
rs56987829	0.83[EUR][1000 genomes]
rs60964095	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2104642	HIATL1	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97150000-97166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:97153800-97182200	Weak transcription	NHEK	skin
5	chr9:97157000-97166400	Weak transcription	A549	lung
6	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:97160200-97171600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:97160200-97182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:97160600-97170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:97160800-97177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:97163200-97166000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:97164400-97185200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:97165400-97166400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:97165400-97166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:97165400-97166600	Enhancers	Fetal Brain Male	brain
18	chr9:97165600-97166400	Enhancers	Adipose Nuclei	Adipose

Quick Search:

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

what's new

Quick links