Variant report

Variant	rs2736553
Chromosome Location	chr11:5384429-5384430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5384124..5385767-chr11:5387283..5389565,2	K562	blood:
2	chr11:5151592..5153371-chr11:5383918..5386236,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10500635	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs10500636	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs10768828	1.00[JPT][hapmap]
rs10768830	1.00[JPT][hapmap]
rs10837867	1.00[JPT][hapmap]
rs10837868	1.00[JPT][hapmap]
rs10837870	1.00[JPT][hapmap]
rs10837871	1.00[JPT][hapmap]
rs10837872	1.00[JPT][hapmap]
rs10837873	1.00[JPT][hapmap]
rs10837874	1.00[JPT][hapmap]
rs10837950	0.91[JPT][hapmap]
rs10837953	0.81[JPT][hapmap]
rs10837965	0.91[JPT][hapmap]
rs10837995	0.88[JPT][hapmap]
rs11036912	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs11036923	1.00[JPT][hapmap]
rs11036924	1.00[JPT][hapmap]
rs11036925	1.00[JPT][hapmap]
rs11036927	1.00[JPT][hapmap]
rs11036930	1.00[JPT][hapmap]
rs11036936	1.00[JPT][hapmap]
rs11036968	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11037129	0.91[JPT][hapmap]
rs11037137	0.91[JPT][hapmap]
rs11037143	0.91[JPT][hapmap]
rs11037144	0.91[JPT][hapmap]
rs11037145	0.91[JPT][hapmap]
rs11037150	0.91[JPT][hapmap]
rs11037152	0.91[JPT][hapmap]
rs11037153	0.91[JPT][hapmap]
rs11037178	0.91[JPT][hapmap]
rs11037215	0.88[JPT][hapmap]
rs11601176	0.91[JPT][hapmap]
rs11601662	0.90[JPT][hapmap]
rs11603059	1.00[JPT][hapmap]
rs11604159	0.91[JPT][hapmap]
rs11604201	0.91[JPT][hapmap]
rs11604520	0.91[JPT][hapmap]
rs11604556	0.91[JPT][hapmap]
rs11604883	0.90[JPT][hapmap]
rs11607365	1.00[JPT][hapmap]
rs11825642	0.81[ASN][1000 genomes]
rs11826532	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11827244	0.81[ASN][1000 genomes]
rs12273734	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12275713	1.00[JPT][hapmap]
rs12360697	0.91[JPT][hapmap]
rs12364011	0.91[JPT][hapmap]
rs12365474	0.91[JPT][hapmap]
rs12794414	0.82[EUR][1000 genomes]
rs12796030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801179	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802814	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12803469	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12808928	0.82[YRI][hapmap]
rs16913820	0.91[JPT][hapmap]
rs16930124	0.81[YRI][hapmap]
rs17270517	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17270776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270818	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270894	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271552	0.91[JPT][hapmap]
rs17271573	0.82[JPT][hapmap]
rs17355388	0.85[CEU][hapmap];0.88[CHB][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355605	0.91[JPT][hapmap]
rs17355626	0.89[YRI][hapmap]
rs17356445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356507	0.91[JPT][hapmap]
rs17356535	0.91[JPT][hapmap]
rs1846319	0.90[JPT][hapmap]
rs1846320	0.91[JPT][hapmap]
rs1909257	0.91[JPT][hapmap]
rs2340316	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2467229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647597	0.94[YRI][hapmap]
rs2647598	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647599	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647600	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2647601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2723380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723387	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736552	0.85[YRI][hapmap]
rs2736554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2736557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736560	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736561	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736562	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736563	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736564	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736565	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4078480	0.91[JPT][hapmap]
rs4243954	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs4243956	0.95[YRI][hapmap]
rs4243959	0.95[YRI][hapmap]
rs4255565	1.00[JPT][hapmap]
rs4269953	0.91[JPT][hapmap]
rs4300412	0.85[YRI][hapmap]
rs4304811	1.00[JPT][hapmap]
rs4312094	0.84[JPT][hapmap]
rs4326830	1.00[JPT][hapmap]
rs4338558	0.89[YRI][hapmap]
rs4345997	0.90[JPT][hapmap]
rs4347419	0.95[YRI][hapmap]
rs4369438	0.95[YRI][hapmap]
rs4439540	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs4462380	0.81[YRI][hapmap]
rs4463873	0.91[JPT][hapmap]
rs4492850	0.91[JPT][hapmap]
rs4494330	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs4495917	1.00[JPT][hapmap]
rs4623930	0.91[JPT][hapmap]
rs4910551	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs4910552	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910752	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs4910755	0.95[YRI][hapmap]
rs4910757	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910760	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910761	0.95[YRI][hapmap]
rs4910762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910763	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910764	0.90[YRI][hapmap]
rs4910765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910767	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910768	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910770	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4910777	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5006882	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs5006884	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs5006885	0.91[YRI][hapmap]
rs5006886	1.00[YRI][hapmap]
rs5006889	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs5024037	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5024042	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs6578611	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs7106330	0.91[JPT][hapmap]
rs7109909	1.00[JPT][hapmap]
rs7113291	0.91[JPT][hapmap]
rs7113565	0.91[YRI][hapmap]
rs7114155	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7116471	0.91[JPT][hapmap]
rs7117560	0.95[YRI][hapmap]
rs715792	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728925	0.91[JPT][hapmap]
rs7483122	0.95[YRI][hapmap]
rs7483786	0.91[JPT][hapmap]
rs7929631	1.00[JPT][hapmap]
rs7930818	0.90[JPT][hapmap]
rs7942877	0.88[JPT][hapmap]
rs7948662	0.80[YRI][hapmap]
rs884222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9704788	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
5	esv18780	chr11:5372010-5384809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1828484	chr11:5374268-5386668	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1829886	chr11:5374268-5386668	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	nsv983147	chr11:5376861-5392760	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv21298	chr11:5382725-5385843	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv2762893	chr11:5384429-5389120	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2736553	TRIM22	cis	parietal	SCAN
rs2736553	TRIM66	cis	cerebellum	SCAN
rs2736553	KRTAP5-2	cis	cerebellum	SCAN
rs2736553	OR52E4	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
2	chr11:5383000-5386600	Enhancers	NH-A	brain
3	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:5383200-5388400	Genic enhancers	K562	blood
5	chr11:5383800-5384800	Weak transcription	HUVEC	blood vessel
6	chr11:5383800-5385000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:5383800-5385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:5384000-5385000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:5384000-5385400	Weak transcription	Hela-S3	cervix
10	chr11:5384200-5391200	Enhancers	NHLF	lung
11	chr11:5384200-5391200	Enhancers	Osteobl	bone

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