Variant report

Variant	rs10911706
Chromosome Location	chr1:185297343-185297344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185291465..185294333-chr1:185294415..185297743,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10157996	0.92[EUR][1000 genomes]
rs10737258	0.93[EUR][1000 genomes]
rs10752948	0.84[EUR][1000 genomes]
rs10798003	0.83[ASN][1000 genomes]
rs10798004	0.85[ASN][1000 genomes]
rs10798006	0.85[ASN][1000 genomes]
rs10911700	0.83[ASN][1000 genomes]
rs10911711	0.85[EUR][1000 genomes]
rs12135769	0.81[ASN][1000 genomes]
rs12136040	0.83[ASN][1000 genomes]
rs1336753	0.82[ASN][1000 genomes]
rs1889976	0.83[ASN][1000 genomes]
rs2095610	0.82[ASN][1000 genomes]
rs2207518	0.84[EUR][1000 genomes]
rs2207519	0.84[EUR][1000 genomes]
rs2295212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611062	0.83[ASN][1000 genomes]
rs4651253	0.84[EUR][1000 genomes]
rs57977436	0.83[ASN][1000 genomes]
rs6424975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659669	0.92[EUR][1000 genomes]
rs6665186	0.84[EUR][1000 genomes]
rs6679327	0.85[EUR][1000 genomes]
rs6682074	0.86[EUR][1000 genomes]
rs6682891	0.84[ASN][1000 genomes]
rs6689206	0.83[EUR][1000 genomes]
rs7537341	0.81[ASN][1000 genomes]
rs7539575	0.83[ASN][1000 genomes]
rs7542721	0.83[ASN][1000 genomes]
rs7548599	0.83[EUR][1000 genomes]
rs9988622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10911706	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185287600-185298200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:185287800-185298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:185295000-185302200	Weak transcription	K562	blood
4	chr1:185296800-185297800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:185297200-185298400	Enhancers	Primary monocytes fromperipheralblood	blood

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