Variant report

Variant	rs5759600
Chromosome Location	chr22:23483769-23483770
allele	A/C
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	STAT1	chr22:23483711-23483911	GM12878	blood:	n/a	n/a
2	MXI1	chr22:23483582-23484550	K562	blood:	n/a	chr22:23484328-23484343
3	MAFK	chr22:23483576-23484543	K562	blood:	n/a	n/a
4	CUX1	chr22:23483532-23484569	K562	blood:	n/a	n/a
5	TBL1XR1	chr22:23483567-23484573	K562	blood:	n/a	n/a
6	BACH1	chr22:23483581-23484532	K562	blood:	n/a	n/a
7	BHLHE40	chr22:23483551-23484544	K562	blood:	n/a	n/a
8	TBL1XR1	chr22:23483571-23484589	K562	blood:	n/a	n/a
9	YY1	chr22:23483554-23484464	H1-hESC	embryonic stem cell:	n/a	chr22:23483925-23483947 chr22:23483927-23483936
10	ELK1	chr22:23483604-23484515	K562	blood:	n/a	n/a
11	GABPA	chr22:23483714-23484438	K562	blood:	n/a	chr22:23484263-23484277 chr22:23484266-23484280 chr22:23484266-23484275 chr22:23484266-23484277
12	POLR2A	chr22:23483580-23485203	HepG2	liver:	n/a	n/a
13	MXI1	chr22:23483522-23484698	SK-N-SH	brain:	n/a	chr22:23484328-23484343
14	NRF1	chr22:23483557-23484599	K562	blood:	n/a	chr22:23484263-23484277 chr22:23484266-23484280 chr22:23484266-23484275 chr22:23484265-23484276 chr22:23484266-23484277
15	EP300	chr22:23483640-23484532	K562	blood:	n/a	n/a
16	SIN3A	chr22:23483752-23484523	H1-hESC	embryonic stem cell:	n/a	n/a
17	THAP1	chr22:23483717-23485146	K562	blood:	n/a	n/a
18	TEAD4	chr22:23483425-23484720	K562	blood:	n/a	n/a
19	PAX5	chr22:23483454-23483795	GM12878	blood:	n/a	n/a
20	YY1	chr22:23483741-23484711	K562	blood:	n/a	chr22:23483925-23483947 chr22:23483927-23483936
21	NR2F2	chr22:23483349-23484857	K562	blood:	n/a	n/a
22	RCOR1	chr22:23483734-23484467	HepG2	liver:	n/a	n/a
23	HMGN3	chr22:23483611-23484630	K562	blood:	n/a	n/a
24	GTF2F1	chr22:23483641-23484490	K562	blood:	n/a	n/a
25	HCFC1	chr22:23483622-23484594	K562	blood:	n/a	n/a
26	POLR2A	chr22:23483478-23485104	K562	blood:	n/a	n/a
27	TBP	chr22:23483540-23484548	K562	blood:	n/a	n/a
28	SMC3	chr22:23483643-23484417	K562	blood:	n/a	chr22:23483879-23483893
29	EP300	chr22:23483582-23484533	K562	blood:	n/a	n/a
30	CBX3	chr22:23483435-23484686	K562	blood:	n/a	n/a
31	CHD2	chr22:23483589-23484614	K562	blood:	n/a	n/a
32	RFX5	chr22:23483534-23484537	K562	blood:	n/a	chr22:23484208-23484217 chr22:23484327-23484342 chr22:23484191-23484204 chr22:23484191-23484205 chr22:23484205-23484219 chr22:23484207-23484221 chr22:23484327-23484342 chr22:23484192-23484201 chr22:23484208-23484221 chr22:23484207-23484220 chr22:23484206-23484222 chr22:23484190-23484206 chr22:23484188-23484203
33	CHD2	chr22:23483667-23484503	GM12878	blood:	n/a	n/a
34	ZNF384	chr22:23483448-23485294	K562	blood:	n/a	n/a
35	STAT5A	chr22:23483430-23485376	K562	blood:	n/a	chr22:23484375-23484387
36	CREB1	chr22:23483510-23484686	K562	blood:	n/a	n/a
37	MXI1	chr22:23483662-23484576	GM12878	blood:	n/a	chr22:23484328-23484343
38	ELF1	chr22:23483439-23484613	K562	blood:	n/a	n/a
39	ATF3	chr22:23483533-23484709	K562	blood:	n/a	n/a
40	TAL1	chr22:23483591-23483891	K562	blood:	n/a	n/a
41	CCNT2	chr22:23483606-23484436	K562	blood:	n/a	n/a
42	ATF3	chr22:23483519-23484607	K562	blood:	n/a	n/a
43	MAX	chr22:23483593-23484470	K562	blood:	n/a	n/a
44	EBF1	chr22:23483683-23483823	GM12878	blood:	n/a	n/a
45	RFX5	chr22:23483671-23484509	GM12878	blood:	n/a	chr22:23484208-23484217 chr22:23484327-23484342 chr22:23484191-23484204 chr22:23484191-23484205 chr22:23484205-23484219 chr22:23484207-23484221 chr22:23484327-23484342 chr22:23484192-23484201 chr22:23484208-23484221 chr22:23484207-23484220 chr22:23484206-23484222 chr22:23484190-23484206 chr22:23484188-23484203
46	MAX	chr22:23483453-23485182	K562	blood:	n/a	n/a
47	WRNIP1	chr22:23483627-23483798	GM12878	blood:	n/a	n/a
48	RUNX3	chr22:23483668-23484497	GM12878	blood:	n/a	n/a
49	REST	chr22:23483737-23484888	H1-neurons	neurons:	n/a	chr22:23484098-23484111
50	ZNF143	chr22:23483533-23484542	K562	blood:	n/a	n/a

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

Extended variants
information (count: 145 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1051875	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11704365	0.85[JPT][hapmap]
rs12167308	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs13054985	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13407	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805058	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1987042	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1987043	0.85[ASN][1000 genomes]
rs1989776	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1989777	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1989778	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2071431	0.84[JPT][hapmap]
rs2157709	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2157710	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2249692	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2266995	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2266997	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2266998	0.81[CHB][hapmap]
rs2267000	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267001	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267002	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267003	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267004	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267005	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267006	0.90[JPT][hapmap]
rs2267007	0.90[JPT][hapmap]
rs2267009	0.84[JPT][hapmap]
rs2283802	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2283803	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283804	0.90[JPT][hapmap]
rs2301554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2330336	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2330361	0.90[JPT][hapmap]
rs3761418	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3788342	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3788343	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3788346	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs3788347	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788348	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788349	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788350	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788351	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3810614	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs3827315	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3827316	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820536	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs4820537	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4820539	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820541	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4820542	0.84[JPT][hapmap]
rs4822354	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4822356	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4822357	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822358	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822359	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822360	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822361	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822362	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822369	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs5751576	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs5751578	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs5751587	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5751589	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5751590	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5751593	0.90[JPT][hapmap]
rs5751596	0.90[JPT][hapmap]
rs5751603	0.84[JPT][hapmap]
rs5759580	0.81[CHB][hapmap]
rs5759590	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5759593	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5759594	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759595	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759596	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5759598	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5759602	0.84[CEU][hapmap]
rs5759604	0.87[JPT][hapmap]
rs5759607	0.90[JPT][hapmap]
rs5759608	0.90[JPT][hapmap]
rs5759611	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs5759612	0.90[JPT][hapmap]
rs5759613	0.90[JPT][hapmap]
rs5759614	0.90[JPT][hapmap]
rs5759615	0.90[JPT][hapmap]
rs5759619	0.90[JPT][hapmap]
rs5759620	0.90[JPT][hapmap]
rs5759621	0.90[JPT][hapmap]
rs5759631	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs5996470	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6003502	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6003518	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6519411	0.81[CHB][hapmap]
rs713682	0.90[JPT][hapmap]
rs737818	0.89[JPT][hapmap]
rs737819	0.90[JPT][hapmap]
rs737846	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs739362	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs756631	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs756633	0.90[JPT][hapmap]
rs768513	0.85[JPT][hapmap]
rs8142746	0.90[JPT][hapmap]
rs874138	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs885962	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs885963	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs885964	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs885965	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs916583	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs916584	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs916585	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9612234	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9612237	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9612244	0.83[ASN][1000 genomes]
rs9612248	0.84[JPT][hapmap]
rs9612251	0.80[ASN][1000 genomes]
rs9612252	0.89[JPT][hapmap]
rs9624033	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	nsv3573	chr22:23441543-23485820	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	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
28	esv1808801	chr22:23478573-23489042	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
29	esv1812488	chr22:23478573-23489042	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	esv1801510	chr22:23478611-23491000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5759600	BCR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23453200-23484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:23476200-23483800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23476800-23483800	Weak transcription	Right Ventricle	heart
4	chr22:23477000-23483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr22:23477800-23484200	Enhancers	Primary B cells from cord blood	blood
6	chr22:23477800-23485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr22:23478000-23484000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:23478400-23483800	Weak transcription	Right Atrium	heart
9	chr22:23479400-23487400	Weak transcription	Esophagus	oesophagus
10	chr22:23479600-23485200	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:23480000-23487000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:23480400-23483800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:23480400-23483800	Weak transcription	HUVEC	blood vessel
14	chr22:23480400-23483800	Weak transcription	NH-A	brain
15	chr22:23480600-23483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:23480600-23483800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:23480800-23483800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:23480800-23483800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:23481000-23483800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:23481000-23483800	Weak transcription	Adipose Nuclei	Adipose
21	chr22:23481000-23483800	Weak transcription	Placenta	Placenta
22	chr22:23481000-23483800	Weak transcription	HSMMtube	muscle
23	chr22:23481000-23484000	Weak transcription	HSMM	muscle
24	chr22:23481200-23483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:23481200-23483800	Weak transcription	Spleen	Spleen
26	chr22:23481200-23484000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:23481400-23483800	Weak transcription	Liver	Liver
28	chr22:23481400-23483800	Weak transcription	Osteobl	bone
29	chr22:23481400-23484800	Weak transcription	Gastric	stomach
30	chr22:23481600-23483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:23481600-23483800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:23481600-23483800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:23481600-23483800	Weak transcription	HMEC	breast
34	chr22:23482000-23486800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:23482200-23484000	Enhancers	Primary T cells from cord blood	blood
36	chr22:23482200-23487000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:23482400-23483800	Enhancers	Fetal Thymus	thymus
38	chr22:23482400-23484400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:23482600-23483800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr22:23482600-23485400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr22:23482800-23483800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr22:23482800-23484800	Enhancers	Stomach Mucosa	stomach
43	chr22:23483000-23484000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr22:23483600-23483800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr22:23483600-23483800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr22:23483600-23483800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:23483600-23483800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr22:23483600-23483800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr22:23483600-23483800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr22:23483600-23483800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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