Variant report

Variant	rs4623930
Chromosome Location	chr11:5357971-5357972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	11:5146608-5154908..11:5357148-5363591	K562	blood:
2	11:4778081-4789138..11:5357148-5363591	GM12878	blood:
3	11:5243048-5250847..11:5357148-5363591	Hela-S3	cervix:
4	11:5357148-5363591..11:5707362-5712027	K562	blood:
5	11:5357148-5363591..11:5721056-5732713	K562	blood:
6	11:4789513-4794705..11:5357148-5363591	GM12878	blood:

Variant related genes	Relation type
ENSG00000132274	Chromatin interaction
ENSG00000244734	Chromatin interaction
ENSG00000167346	Chromatin interaction
ENSG00000171944	Chromatin interaction
ENSG00000188069	Chromatin interaction
ENSG00000221031	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10768828	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10768830	0.90[JPT][hapmap]
rs10768831	0.87[ASN][1000 genomes]
rs10837867	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837868	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837870	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837871	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837872	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837873	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837874	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10837878	0.85[ASN][1000 genomes]
rs10837950	1.00[JPT][hapmap]
rs10837953	0.90[JPT][hapmap]
rs10837965	1.00[JPT][hapmap]
rs10837995	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11036923	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11036924	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11036925	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11036927	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11036930	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11036936	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11037129	1.00[JPT][hapmap]
rs11037137	1.00[JPT][hapmap]
rs11037143	1.00[JPT][hapmap]
rs11037144	1.00[JPT][hapmap]
rs11037145	1.00[JPT][hapmap]
rs11037150	1.00[JPT][hapmap]
rs11037152	1.00[JPT][hapmap]
rs11037153	1.00[JPT][hapmap]
rs11037178	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11037215	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11601176	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11601662	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11603059	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11604159	1.00[JPT][hapmap]
rs11604201	1.00[JPT][hapmap]
rs11604520	1.00[JPT][hapmap]
rs11604556	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11604883	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11607365	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12275713	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12360697	1.00[JPT][hapmap]
rs12364011	1.00[JPT][hapmap]
rs12365474	1.00[JPT][hapmap]
rs12796030	0.91[JPT][hapmap]
rs12799977	0.81[ASN][1000 genomes]
rs12801179	0.91[JPT][hapmap]
rs16913820	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17270517	0.91[JPT][hapmap]
rs17270776	0.91[JPT][hapmap]
rs17270818	0.91[JPT][hapmap]
rs17270832	0.90[JPT][hapmap]
rs17270894	0.91[JPT][hapmap]
rs17271552	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17271573	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17355605	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17356328	0.85[ASN][1000 genomes]
rs17356445	0.90[JPT][hapmap]
rs17356507	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17356535	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1846319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1846320	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1909257	1.00[JPT][hapmap]
rs2340323	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2467229	0.83[JPT][hapmap]
rs2467232	0.91[JPT][hapmap]
rs2647598	0.91[JPT][hapmap]
rs2647599	0.91[JPT][hapmap]
rs2647600	0.91[JPT][hapmap]
rs2647601	0.91[JPT][hapmap]
rs2647606	0.90[JPT][hapmap]
rs2723380	0.91[JPT][hapmap]
rs2723387	0.91[JPT][hapmap]
rs2736553	0.91[JPT][hapmap]
rs2736555	0.91[JPT][hapmap]
rs2736557	0.91[JPT][hapmap]
rs2736560	0.91[JPT][hapmap]
rs2736561	0.91[JPT][hapmap]
rs2736565	0.91[JPT][hapmap]
rs28797193	0.81[ASN][1000 genomes]
rs28819106	0.81[ASN][1000 genomes]
rs28819138	0.85[ASN][1000 genomes]
rs28838640	0.81[ASN][1000 genomes]
rs28865049	0.81[ASN][1000 genomes]
rs4078480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4255565	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4269953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4271412	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304811	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4326830	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4345997	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4463873	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4492850	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4495917	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4910552	1.00[JPT][hapmap]
rs4910757	0.91[JPT][hapmap]
rs4910760	0.91[JPT][hapmap]
rs4910762	0.91[JPT][hapmap]
rs4910764	0.85[ASN][1000 genomes]
rs4910765	1.00[JPT][hapmap]
rs4910770	0.91[JPT][hapmap]
rs4910771	1.00[JPT][hapmap]
rs5019249	0.87[ASN][1000 genomes]
rs5024037	0.91[JPT][hapmap]
rs7106330	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7109909	1.00[JPT][hapmap]
rs7113291	1.00[JPT][hapmap]
rs7116471	1.00[JPT][hapmap]
rs728925	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7483786	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7929631	0.91[JPT][hapmap]
rs7930818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7942877	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7943181	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs884222	0.91[JPT][hapmap]

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	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5356800-5364000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:5357000-5358600	Enhancers	K562	blood
3	chr11:5357000-5361200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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