Variant report

Variant	rs2647597
Chromosome Location	chr11:5375761-5375762
allele	A/G
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	POLR2A	chr11:5375723-5376010	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000230087	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10500635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10500636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11036985	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11826587	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12278237	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12291806	0.81[CEU][hapmap]
rs12361333	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12364305	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12795134	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12796030	0.80[YRI][hapmap]
rs12801179	0.83[YRI][hapmap]
rs12802242	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12808928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16930124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17270776	0.89[YRI][hapmap]
rs17270818	0.83[YRI][hapmap]
rs17270832	0.89[YRI][hapmap]
rs17270894	0.83[YRI][hapmap]
rs17355388	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs17355626	1.00[CHB][hapmap];0.94[YRI][hapmap]
rs17356445	0.89[YRI][hapmap]
rs17359438	0.88[CEU][hapmap]
rs2467229	0.89[YRI][hapmap]
rs2467232	0.94[YRI][hapmap]
rs2467233	1.00[CEU][hapmap]
rs2467234	1.00[CEU][hapmap]
rs2647598	0.89[YRI][hapmap]
rs2647599	0.89[YRI][hapmap]
rs2647600	1.00[YRI][hapmap]
rs2647601	0.94[YRI][hapmap]
rs2647607	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2647608	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2723380	0.89[YRI][hapmap]
rs2723387	0.89[YRI][hapmap]
rs2736552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2736553	0.94[YRI][hapmap]
rs2736555	0.88[YRI][hapmap]
rs2736560	0.84[YRI][hapmap]
rs2736561	0.89[YRI][hapmap]
rs2736565	0.89[YRI][hapmap]
rs34053335	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34120424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34397863	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35346292	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36077313	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4243954	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243957	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243958	1.00[CEU][hapmap]
rs4243959	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4296065	0.85[CHB][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4298932	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4300412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4306312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4338558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4347419	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4369438	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4373970	1.00[CEU][hapmap]
rs4439540	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4462380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4494330	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4910552	0.89[YRI][hapmap]
rs4910553	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4910752	0.88[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4910755	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4910756	1.00[CEU][hapmap]
rs4910757	0.89[YRI][hapmap]
rs4910760	0.89[YRI][hapmap]
rs4910761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910762	0.84[YRI][hapmap]
rs4910764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs4910770	0.87[YRI][hapmap]
rs4910771	0.94[YRI][hapmap]
rs4910772	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4910774	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910779	0.86[AMR][1000 genomes]
rs4910780	0.88[CEU][hapmap]
rs5006882	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006883	1.00[CEU][hapmap]
rs5006884	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006885	0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006886	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006887	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5006889	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5024037	0.89[YRI][hapmap]
rs5024038	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5024039	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5024040	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5024042	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55709035	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60307707	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6578617	0.82[AMR][1000 genomes]
rs7112862	1.00[CEU][hapmap]
rs7113385	1.00[CEU][hapmap]
rs7113565	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7113817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7117560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7124299	0.83[AMR][1000 genomes]
rs7130165	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7131367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71488545	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71488546	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7479477	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7483122	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7929412	0.88[CEU][hapmap]
rs7948662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs884222	0.80[YRI][hapmap]
rs9665744	0.88[CEU][hapmap]
rs9795112	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv1829102	chr11:5373646-5383453	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv1826272	chr11:5375383-5383341	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:3 , 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	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5373000-5376800	Strong transcription	K562	blood

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