Variant report

Variant	rs2249692
Chromosome Location	chr22:23491644-23491645
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	MAX	chr22:23491500-23492522	K562	blood:	n/a	n/a

Variant related genes	Relation type
RAB36	TF binding region
RTDR1	TF binding region

Extended variants
information (count: 185 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1051875	0.95[JPT][hapmap]
rs10775764	0.88[ASN][1000 genomes]
rs12167308	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12484280	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13054985	0.89[JPT][hapmap]
rs1805058	0.90[JPT][hapmap]
rs1807702	0.87[ASN][1000 genomes]
rs1807705	0.86[ASN][1000 genomes]
rs1807706	0.88[ASN][1000 genomes]
rs1987042	0.82[ASN][1000 genomes]
rs1987043	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1989776	0.85[JPT][hapmap]
rs1989777	0.85[JPT][hapmap]
rs1989778	0.85[JPT][hapmap]
rs2008176	0.88[ASN][1000 genomes]
rs2071431	0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071432	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071433	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071434	0.89[EUR][1000 genomes]
rs2071435	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2071436	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2106109	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2157710	0.90[JPT][hapmap]
rs2246716	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2266995	0.85[JPT][hapmap]
rs2266997	0.89[JPT][hapmap]
rs2266998	0.84[JPT][hapmap]
rs2267000	0.90[JPT][hapmap]
rs2267001	0.85[JPT][hapmap]
rs2267003	0.84[JPT][hapmap]
rs2267004	0.90[JPT][hapmap]
rs2267005	0.85[JPT][hapmap]
rs2267006	0.95[JPT][hapmap]
rs2267007	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2267008	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267009	0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267011	0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283802	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2283803	0.90[JPT][hapmap]
rs2283804	0.95[JPT][hapmap]
rs2301554	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2301555	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs2330336	0.90[JPT][hapmap]
rs2330361	0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3761418	0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3788342	0.89[JPT][hapmap]
rs3788343	0.89[JPT][hapmap]
rs3788346	0.85[JPT][hapmap]
rs3788347	0.95[JPT][hapmap]
rs3788348	0.90[JPT][hapmap]
rs3788350	0.84[JPT][hapmap]
rs3788356	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3788357	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3810614	0.85[JPT][hapmap]
rs3827315	0.89[JPT][hapmap]
rs4552283	0.88[ASN][1000 genomes]
rs4820536	0.89[JPT][hapmap]
rs4820537	0.95[JPT][hapmap]
rs4820538	0.83[AMR][1000 genomes]
rs4820539	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4820541	0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820542	0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4822354	0.85[JPT][hapmap]
rs4822357	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4822358	0.82[ASN][1000 genomes]
rs4822359	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4822360	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4822361	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4822362	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4822369	0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55637879	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5751576	0.85[JPT][hapmap]
rs5751578	0.84[JPT][hapmap]
rs5751579	0.84[JPT][hapmap]
rs5751587	0.88[JPT][hapmap]
rs5751589	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs5751590	0.86[ASN][1000 genomes]
rs5751593	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5751596	0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs5751597	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5751598	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5751600	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5751601	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5751602	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5751603	0.80[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5751606	0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5751607	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5759580	0.84[JPT][hapmap]
rs5759593	0.90[JPT][hapmap]
rs5759596	0.81[ASN][1000 genomes]
rs5759598	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs5759600	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs5759603	0.84[JPT][hapmap]
rs5759604	0.87[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5759607	0.86[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5759608	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759609	0.88[ASN][1000 genomes]
rs5759611	0.90[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759612	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759613	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759614	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759615	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759616	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759617	0.89[ASN][1000 genomes]
rs5759618	0.88[ASN][1000 genomes]
rs5759619	0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs5759620	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759621	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5759622	0.87[ASN][1000 genomes]
rs5759624	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5759628	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5759629	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5759630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5759631	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5759635	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5759637	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5759638	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57983679	0.84[ASN][1000 genomes]
rs5996470	0.82[ASN][1000 genomes]
rs5996483	0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6003502	0.95[JPT][hapmap]
rs6003518	0.90[JPT][hapmap]
rs60037456	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6519411	0.84[JPT][hapmap]
rs6519421	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs713617	0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs713682	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7289172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73152631	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737818	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs737819	0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs737820	0.88[ASN][1000 genomes]
rs739362	0.90[JPT][hapmap]
rs756631	0.90[JPT][hapmap]
rs756633	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs768514	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8138361	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8142746	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs874138	0.95[JPT][hapmap]
rs885962	0.85[JPT][hapmap]
rs885963	0.85[JPT][hapmap]
rs885964	0.90[JPT][hapmap]
rs885965	0.80[JPT][hapmap]
rs916583	0.90[JPT][hapmap]
rs916584	0.90[JPT][hapmap]
rs916585	0.87[JPT][hapmap]
rs9608085	0.88[ASN][1000 genomes]
rs9612234	0.95[JPT][hapmap]
rs9612237	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs9612244	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9612248	0.90[JPT][hapmap]
rs9612251	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9612252	0.80[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9612253	0.88[ASN][1000 genomes]
rs9624047	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9624048	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9624049	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9624050	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9624051	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
3	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
4	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	92 gene(s)	inside rSNPs	diseases
17	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
18	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
19	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
20	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
23	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
26	nsv544616	chr22:23474827-23495231	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2249692	BCR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23487800-23499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:23488000-23499400	Weak transcription	Right Ventricle	heart
3	chr22:23488200-23491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:23488200-23492800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr22:23488200-23492800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr22:23488200-23494600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:23488200-23505800	Weak transcription	HSMMtube	muscle
8	chr22:23488400-23491800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:23488400-23491800	Weak transcription	Fetal Intestine Small	intestine
10	chr22:23488400-23491800	Weak transcription	Ovary	ovary
11	chr22:23488400-23492000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:23488400-23492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:23488400-23493200	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:23488400-23493400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr22:23488400-23493400	Weak transcription	Fetal Brain Female	brain
16	chr22:23488400-23494800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:23488400-23495000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:23488400-23499000	Weak transcription	Colonic Mucosa	Colon
19	chr22:23488400-23499000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:23488400-23499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:23488400-23505800	Weak transcription	Brain Substantia Nigra	brain
22	chr22:23488600-23492000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:23488600-23492000	Weak transcription	Adipose Nuclei	Adipose
24	chr22:23488600-23492000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:23488600-23493200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:23488600-23505800	Weak transcription	Brain Germinal Matrix	brain
27	chr22:23488600-23506800	Weak transcription	A549	lung
28	chr22:23488800-23492200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:23488800-23505400	Weak transcription	Fetal Brain Male	brain
30	chr22:23489000-23491800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr22:23489000-23492000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:23489000-23494400	Weak transcription	GM12878-XiMat	blood
33	chr22:23489000-23496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:23489200-23491800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:23489200-23491800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:23489200-23491800	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:23489200-23492000	Weak transcription	Brain Angular Gyrus	brain
38	chr22:23489200-23494200	Weak transcription	Spleen	Spleen
39	chr22:23489200-23497400	Weak transcription	Fetal Kidney	kidney
40	chr22:23489200-23499800	Weak transcription	NHLF	lung
41	chr22:23489400-23491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:23489400-23492000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:23489800-23498400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:23490000-23493000	Enhancers	Fetal Thymus	thymus
45	chr22:23490200-23491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:23490200-23492400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr22:23490200-23493000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:23490200-23496800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:23490200-23500200	Weak transcription	Fetal Lung	lung
50	chr22:23490200-23504800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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