Variant report

Variant	rs835671
Chromosome Location	chr1:226941590-226941591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1097296	1.00[EUR][1000 genomes]
rs1110033	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4653465	0.97[EUR][1000 genomes]
rs4653466	0.99[ASN][1000 genomes]
rs6662601	0.94[EUR][1000 genomes]
rs6694031	0.90[EUR][1000 genomes]
rs6700213	0.99[ASN][1000 genomes]
rs6703275	0.99[ASN][1000 genomes]
rs708777	0.95[EUR][1000 genomes]
rs708778	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs708779	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs835667	0.96[EUR][1000 genomes]
rs9426597	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs835671	ARF1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226937400-226941600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:226940400-226941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226940600-226943600	Enhancers	K562	blood
4	chr1:226940600-226944000	Enhancers	Fetal Thymus	thymus
5	chr1:226941000-226944000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:226941200-226942600	Enhancers	Primary T cells from cord blood	blood
7	chr1:226941200-226942600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:226941200-226943800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:226941200-226943800	Enhancers	Thymus	Thymus
10	chr1:226941400-226941800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:226941400-226941800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:226941400-226941800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:226941400-226942000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:226941400-226942000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:226941400-226942000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:226941400-226942000	Enhancers	Spleen	Spleen
17	chr1:226941400-226942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:226941400-226943600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:226941400-226943600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:226941400-226943800	Enhancers	Primary T helper cells PMA-I stimulated	--

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