Variant report

Variant	rs4910752
Chromosome Location	chr11:5370955-5370956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5370798-5371158	Hela-S3	cervix:	n/a	chr11:5370968-5370979 chr11:5370969-5370980
2	CEBPB	chr11:5370798-5371166	IMR90	lung:	n/a	chr11:5370968-5370979 chr11:5370969-5370980
3	CEBPB	chr11:5370851-5371108	A549	lung:	n/a	chr11:5370968-5370979 chr11:5370969-5370980
4	POLR2A	chr11:5370830-5371099	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr11:5370814-5371155	HepG2	liver:	n/a	chr11:5370968-5370979 chr11:5370969-5370980
6	CEBPB	chr11:5370799-5371155	K562	blood:	n/a	chr11:5370968-5370979 chr11:5370969-5370980
7	CEBPB	chr11:5370787-5371131	H1-hESC	embryonic stem cell:	n/a	chr11:5370968-5370979 chr11:5370969-5370980

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5369590..5371367-chr11:5374637..5376973,2	K562	blood:

Variant related genes	Relation type
OR51B6	TF binding region
ENSG00000230087	TF binding region
ENSG00000230087	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10500635	0.92[ASW][hapmap];0.83[CEU][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10500636	0.85[ASW][hapmap];0.83[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11036919	1.00[JPT][hapmap]
rs11036928	1.00[JPT][hapmap]
rs11036985	0.87[AMR][1000 genomes]
rs11826587	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12361333	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12364305	0.85[AMR][1000 genomes]
rs12795134	0.85[AMR][1000 genomes]
rs12796030	0.82[YRI][hapmap]
rs12801179	0.87[YRI][hapmap]
rs12802242	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12808928	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes]
rs16930124	0.82[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes]
rs17270776	0.90[YRI][hapmap]
rs17270818	0.87[YRI][hapmap]
rs17270832	0.90[YRI][hapmap]
rs17270894	0.87[YRI][hapmap]
rs17355388	0.90[YRI][hapmap]
rs17355626	0.94[YRI][hapmap]
rs17356445	0.90[YRI][hapmap]
rs2467229	0.91[YRI][hapmap]
rs2467232	0.95[YRI][hapmap]
rs2647597	0.88[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2647598	0.91[YRI][hapmap]
rs2647599	0.91[YRI][hapmap]
rs2647600	1.00[YRI][hapmap]
rs2647601	0.84[LWK][hapmap];0.95[YRI][hapmap]
rs2647607	0.86[AMR][1000 genomes]
rs2647608	0.84[CHB][hapmap];0.85[AMR][1000 genomes]
rs2723380	0.90[YRI][hapmap]
rs2723387	0.91[YRI][hapmap]
rs2736552	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2736553	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs2736555	0.89[YRI][hapmap]
rs2736560	0.87[YRI][hapmap]
rs2736561	0.91[YRI][hapmap]
rs2736565	0.91[YRI][hapmap]
rs34053335	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34120424	0.86[AMR][1000 genomes]
rs34397863	0.82[AMR][1000 genomes]
rs35346292	0.85[AMR][1000 genomes]
rs4094102	0.84[MEX][hapmap]
rs4243954	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243957	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243958	1.00[JPT][hapmap]
rs4243959	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4296065	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4298932	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4300412	0.81[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes]
rs4306312	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs4338558	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4347419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4369438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373970	1.00[JPT][hapmap]
rs4439540	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4462380	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs4494330	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910552	0.91[YRI][hapmap]
rs4910553	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910753	0.86[ASN][1000 genomes]
rs4910755	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910756	1.00[JPT][hapmap]
rs4910757	0.91[YRI][hapmap]
rs4910760	0.91[YRI][hapmap]
rs4910761	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910762	0.87[YRI][hapmap]
rs4910764	0.80[CEU][hapmap];0.95[YRI][hapmap]
rs4910770	0.89[YRI][hapmap]
rs4910771	0.95[YRI][hapmap]
rs4910772	0.90[AMR][1000 genomes]
rs4910774	0.85[AMR][1000 genomes]
rs4910775	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4910776	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4910779	0.85[AMR][1000 genomes]
rs4910780	1.00[JPT][hapmap]
rs5006882	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006883	1.00[JPT][hapmap]
rs5006884	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006885	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006886	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006887	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006889	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5024037	0.91[YRI][hapmap]
rs5024038	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5024039	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5024040	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5024042	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55709035	0.86[AMR][1000 genomes]
rs60307707	0.89[AMR][1000 genomes]
rs7112862	1.00[JPT][hapmap]
rs7113385	1.00[JPT][hapmap]
rs7113565	0.83[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7113817	0.82[CEU][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes]
rs7117560	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124299	0.82[AMR][1000 genomes]
rs7130165	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7131367	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs71488545	0.85[AMR][1000 genomes]
rs71488546	0.82[AMR][1000 genomes]
rs7479477	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7483122	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929412	1.00[JPT][hapmap]
rs7948662	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs884222	0.83[YRI][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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4910752	OR52E4	cis	cerebellum	SCAN
rs4910752	TRIM66	cis	cerebellum	SCAN
rs4910752	CYB5R2	cis	cerebellum	SCAN
rs4910752	KRTAP5-2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5367600-5371000	Weak transcription	Osteobl	bone
3	chr11:5369600-5371000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:5370200-5372800	Weak transcription	K562	blood
5	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:5370400-5371000	Enhancers	HUES48 Cell Line	embryonic stem cell

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