Variant report

Variant	rs802348
Chromosome Location	chr7:120139453-120139454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10233829	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10245507	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10274789	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275068	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276390	0.84[ASN][1000 genomes]
rs10279267	0.92[ASN][1000 genomes]
rs10279812	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1029978	0.88[ASN][1000 genomes]
rs10488299	0.88[ASN][1000 genomes]
rs10953918	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11761401	0.88[ASN][1000 genomes]
rs11980474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531042	0.84[ASN][1000 genomes]
rs12531730	0.85[ASN][1000 genomes]
rs12536754	0.86[ASN][1000 genomes]
rs17132703	0.88[ASN][1000 genomes]
rs2041679	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2041680	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58738977	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59732893	0.85[ASN][1000 genomes]
rs62473168	0.85[ASN][1000 genomes]
rs6466748	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66473061	0.80[ASN][1000 genomes]
rs6948806	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966670	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs702414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702415	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs702416	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs723908	0.88[ASN][1000 genomes]
rs7785421	0.84[ASN][1000 genomes]
rs7785571	0.92[ASN][1000 genomes]
rs7788666	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798075	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7809573	0.85[ASN][1000 genomes]
rs802332	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs802333	0.92[ASN][1000 genomes]
rs802334	0.81[ASN][1000 genomes]
rs802335	0.81[ASN][1000 genomes]
rs802336	0.92[ASN][1000 genomes]
rs802337	0.91[ASN][1000 genomes]
rs802338	0.81[ASN][1000 genomes]
rs802339	0.81[ASN][1000 genomes]
rs802340	0.97[ASN][1000 genomes]
rs802344	0.88[ASN][1000 genomes]
rs802345	0.88[ASN][1000 genomes]
rs802346	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802347	0.88[ASN][1000 genomes]
rs802349	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802350	0.87[ASN][1000 genomes]
rs802351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802352	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802353	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802354	0.88[ASN][1000 genomes]
rs802355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802356	0.88[ASN][1000 genomes]
rs802357	0.88[ASN][1000 genomes]
rs802358	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802359	0.88[ASN][1000 genomes]
rs802360	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802362	0.81[ASN][1000 genomes]
rs802363	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs802364	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs802365	0.81[ASN][1000 genomes]
rs802366	0.86[ASN][1000 genomes]
rs802367	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs802368	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802369	0.92[ASN][1000 genomes]
rs802370	0.81[ASN][1000 genomes]
rs802371	0.92[ASN][1000 genomes]
rs802372	0.92[ASN][1000 genomes]
rs802373	0.81[ASN][1000 genomes]
rs802374	0.81[ASN][1000 genomes]
rs802376	0.81[ASN][1000 genomes]
rs802377	0.81[ASN][1000 genomes]
rs802378	0.81[ASN][1000 genomes]
rs9641639	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv889116	chr7:120098304-120180671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs802348	KCND2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120127800-120141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:120136400-120142200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:120139400-120140000	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links