Variant report

Variant	rs2447208
Chromosome Location	chr15:43933895-43933896
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	chr15:43933839-43934039	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	15:43782117-43785993..15:43931042-43936532	GM12878	blood:

Variant related genes	Relation type
RNU6-610P	TF binding region
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 241 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10163054	0.95[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10438303	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10518820	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs11070407	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11070408	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11070410	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs11852840	0.81[EUR][1000 genomes]
rs11856184	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11857661	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101756	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12437808	0.81[EUR][1000 genomes]
rs12440573	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12441127	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12441861	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs12441984	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12442129	0.81[EUR][1000 genomes]
rs12443102	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs13380397	0.81[EUR][1000 genomes]
rs16950562	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs16963953	0.81[EUR][1000 genomes]
rs16965120	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs1814538	0.88[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs2245715	1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes]
rs2251844	0.82[AMR][1000 genomes]
rs2253708	0.88[CEU][hapmap]
rs2255042	0.81[AMR][1000 genomes]
rs2255051	0.81[AMR][1000 genomes]
rs2255440	1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes]
rs2259174	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2260160	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs2264876	0.90[MEX][hapmap];0.88[TSI][hapmap]
rs2277531	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2412810	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2439	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2439831	0.88[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2439832	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2439834	0.81[AMR][1000 genomes]
rs2439850	0.86[CEU][hapmap]
rs2444032	0.88[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs2444250	0.88[CEU][hapmap]
rs2447193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447195	0.88[ASN][1000 genomes]
rs2447196	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2447197	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2447198	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2447210	0.98[ASN][1000 genomes]
rs2447211	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447212	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447213	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2447215	1.00[ASN][1000 genomes]
rs2467402	0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs2467426	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2467736	0.88[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs2467739	0.88[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs2470120	0.99[ASN][1000 genomes]
rs2470121	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];1.00[ASN][1000 genomes]
rs2470124	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470130	0.82[AMR][1000 genomes]
rs2470131	0.82[AMR][1000 genomes]
rs2470134	0.80[AMR][1000 genomes]
rs2614811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2614819	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2614822	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2788	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs28366727	0.98[ASN][1000 genomes]
rs28433760	0.92[EUR][1000 genomes]
rs28475234	0.85[AMR][1000 genomes]
rs28495368	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap]
rs28502289	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28504496	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28509275	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs28513374	1.00[CHB][hapmap]
rs28542007	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28546844	0.81[EUR][1000 genomes]
rs28578041	0.90[EUR][1000 genomes]
rs28578398	0.81[EUR][1000 genomes]
rs28595038	0.87[EUR][1000 genomes]
rs28606452	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636829	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs28678901	0.81[EUR][1000 genomes]
rs28684672	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs28699233	0.90[MEX][hapmap]
rs28704825	0.84[ASN][1000 genomes]
rs28712213	0.81[EUR][1000 genomes]
rs28718261	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28891769	0.81[EUR][1000 genomes]
rs2915776	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915779	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915792	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2920780	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2920781	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920782	0.98[ASN][1000 genomes]
rs2927071	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2927072	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2927075	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955969	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2957636	0.98[ASN][1000 genomes]
rs2957637	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957639	0.98[ASN][1000 genomes]
rs3097773	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs3099045	0.96[ASN][1000 genomes]
rs3099047	0.92[ASN][1000 genomes]
rs3101443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35457073	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736180	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs3759790	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs3759791	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs3784275	0.90[MEX][hapmap];0.83[TSI][hapmap]
rs3816792	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs3825783	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs3862142	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap]
rs475486	0.82[AMR][1000 genomes]
rs486301	0.81[AMR][1000 genomes]
rs495175	0.88[CEU][hapmap]
rs496584	1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes]
rs4997480	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs527921	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs544122	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs56397895	0.81[AMR][1000 genomes]
rs575082	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs57865312	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60883262	0.81[EUR][1000 genomes]
rs689647	0.88[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs689754	0.86[CEU][hapmap]
rs689781	0.88[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs689826	0.88[CEU][hapmap]
rs689883	0.82[AMR][1000 genomes]
rs690316	0.88[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs690436	0.88[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs693919	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs694461	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs694985	0.88[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes]
rs7168158	0.84[EUR][1000 genomes]
rs7169322	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs7169988	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs7170167	0.81[EUR][1000 genomes]
rs7171750	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7173487	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs7174208	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7175032	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs7175129	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8023458	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs8023696	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8029210	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8033995	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8042868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1039949	chr15:43831879-43992646	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv524910	chr15:43836478-43939642	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv904148	chr15:43836478-43961204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv1039818	chr15:43845410-43988541	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1048041	chr15:43845410-43991014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv870240	chr15:43851142-43988761	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	nsv534652	chr15:43851548-43948346	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv994950	chr15:43851548-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv904151	chr15:43852043-43938288	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv904152	chr15:43852043-43940806	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv904153	chr15:43852043-43951118	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv904154	chr15:43852043-43961204	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv904155	chr15:43852043-43988573	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv904156	chr15:43852043-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
31	esv3413623	chr15:43852060-43973058	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	esv13634	chr15:43852144-43988641	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	esv3506095	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	esv3506097	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
35	nsv1514	chr15:43859260-43996580	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
36	nsv904159	chr15:43873489-43939642	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
37	nsv904160	chr15:43873489-43940806	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
38	nsv904161	chr15:43873489-43961204	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
39	nsv904162	chr15:43873489-44011113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
40	nsv904163	chr15:43873489-44023963	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
41	esv2421427	chr15:43885118-43988553	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
42	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
43	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
44	nsv533146	chr15:43888927-43938847	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
45	nsv868983	chr15:43888927-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
46	nsv915702	chr15:43888952-43951317	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
47	esv33424	chr15:43888955-43995223	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
48	esv3693197	chr15:43888976-43938288	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
49	nsv904164	chr15:43888976-43939642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
50	nsv904165	chr15:43888976-43940806	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2447208	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2447208	ADAL	cis	Thyroid	GTEx
rs2447208	ADAL	cis	multi-tissue	Pritchard
rs2447208	CATSPER2	cis	multi-tissue	Pritchard
rs2447208	ADAL	cis	Artery Tibial	GTEx
rs2447208	ADAL	cis	Esophagus Muscularis	GTEx
rs2447208	LOC440278	cis	multi-tissue	Pritchard
rs2447208	ADAL	cis	Adipose Subcutaneous	GTEx
rs2447208	ADAL	cis	Artery Aorta	GTEx
rs2447208	ELL3	cis	multi-tissue	Pritchard
rs2447208	CKMT1A	cis	Skin Sun Exposed Lower leg	GTEx
rs2447208	ADAL	cis	lung	GTEx
rs2447208	CKMT1A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43914600-43937400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:43915400-43941000	Weak transcription	Hela-S3	cervix
3	chr15:43919600-43941600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:43920400-43941400	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:43921000-43940600	Weak transcription	Gastric	stomach
6	chr15:43921400-43950400	Weak transcription	Aorta	Aorta
7	chr15:43921800-43952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:43922800-43937600	Weak transcription	Fetal Intestine Large	intestine
9	chr15:43923200-43937400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:43923200-43951800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:43925200-43939200	Weak transcription	Brain Angular Gyrus	brain
12	chr15:43925200-43939800	Weak transcription	Brain Anterior Caudate	brain
13	chr15:43929600-43940200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:43929800-43937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:43931200-43943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:43931200-43952000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:43931200-43952600	Weak transcription	Left Ventricle	heart
18	chr15:43931400-43939000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:43931400-43942400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:43932800-43943600	Weak transcription	NHEK	skin
21	chr15:43933800-43941000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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