Variant report

Variant	rs60688387
Chromosome Location	chr2:189142943-189142944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189142080..189146358-chr2:189153937..189158201,5	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10221554	0.85[ASN][1000 genomes]
rs10931351	0.90[ASN][1000 genomes]
rs11676580	0.89[ASN][1000 genomes]
rs12151472	0.90[ASN][1000 genomes]
rs12151502	0.90[ASN][1000 genomes]
rs12151631	0.90[ASN][1000 genomes]
rs12614592	0.83[ASN][1000 genomes]
rs13389609	0.85[ASN][1000 genomes]
rs13403138	0.85[ASN][1000 genomes]
rs13416775	0.85[ASN][1000 genomes]
rs13432874	0.85[ASN][1000 genomes]
rs16829913	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16829916	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34477786	0.85[ASN][1000 genomes]
rs4337443	0.84[ASN][1000 genomes]
rs4371324	0.85[ASN][1000 genomes]
rs4372844	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4453654	0.92[ASN][1000 genomes]
rs4490147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4536617	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4541223	0.85[ASN][1000 genomes]
rs4552156	0.89[ASN][1000 genomes]
rs4595930	0.85[ASN][1000 genomes]
rs66579041	0.85[ASN][1000 genomes]
rs66725342	0.85[ASN][1000 genomes]
rs6707721	0.85[ASN][1000 genomes]
rs6708455	0.89[ASN][1000 genomes]
rs67324207	0.85[ASN][1000 genomes]
rs6735839	0.98[ASN][1000 genomes]
rs6749420	0.98[ASN][1000 genomes]
rs6749586	0.85[ASN][1000 genomes]
rs67775003	0.89[ASN][1000 genomes]
rs68056256	0.85[ASN][1000 genomes]
rs72901564	0.85[ASN][1000 genomes]
rs72901581	0.85[ASN][1000 genomes]
rs72903517	0.89[ASN][1000 genomes]
rs72903530	0.98[ASN][1000 genomes]
rs72907635	0.92[ASN][1000 genomes]
rs73034491	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73034500	0.94[ASN][1000 genomes]
rs73034501	0.94[ASN][1000 genomes]
rs73036412	0.94[ASN][1000 genomes]
rs73036455	0.89[ASN][1000 genomes]
rs73038414	0.87[ASN][1000 genomes]
rs73039927	0.85[ASN][1000 genomes]
rs73039929	0.85[ASN][1000 genomes]
rs73041656	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73043732	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7559554	0.92[ASN][1000 genomes]
rs7562160	0.92[ASN][1000 genomes]
rs7577265	0.92[ASN][1000 genomes]
rs7586536	0.85[ASN][1000 genomes]
rs7596399	0.85[ASN][1000 genomes]
rs7601023	0.85[ASN][1000 genomes]
rs9653312	0.85[ASN][1000 genomes]
rs980065	0.85[ASN][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189140600-189143200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189141200-189143200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:189141600-189143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:189141600-189143200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:189141600-189143200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:189142200-189143200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:189142200-189143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:189142200-189143200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:189142600-189143600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:189142600-189144400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:189142600-189144400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:189142800-189143200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:189142800-189144200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links