Variant report

Variant	rs2298429
Chromosome Location	chr22:21983260-21983261
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	ESR1	chr22:21983175-21983595	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr22:21982760-21984539	NB4	blood:	n/a	n/a
3	PAX5	chr22:21983167-21983849	GM12878	blood:	n/a	n/a
4	HMGN3	chr22:21982380-21984639	K562	blood:	n/a	n/a
5	BACH1	chr22:21983243-21984544	K562	blood:	n/a	n/a
6	POLR2A	chr22:21980580-21984939	K562	blood:	n/a	n/a
7	RUNX3	chr22:21983152-21984635	GM12878	blood:	n/a	n/a
8	E2F6	chr22:21982481-21984627	K562	blood:	n/a	chr22:21983082-21983094
9	POLR2A	chr22:21982968-21984511	MCF10A-Er-Src	breast:	n/a	n/a
10	MTA3	chr22:21983084-21984523	GM12878	blood:	n/a	n/a
11	CTCF	chr22:21982333-21984660	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
12	CTCF	chr22:21982359-21984783	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
13	POLR2A	chr22:21982137-21984611	GM18505	blood:	n/a	n/a
14	GABPA	chr22:21983191-21984602	K562	blood:	n/a	n/a
15	POLR2A	chr22:21983160-21984507	A549	lung:	n/a	n/a
16	CTCF	chr22:21983220-21983370	HVMF	connective:	n/a	n/a
17	ELF1	chr22:21982929-21984644	HCT-116	colon:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
18	CTCF	chr22:21983061-21984772	SK-N-SH	brain:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
19	MAX	chr22:21983179-21984580	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr22:21983233-21984466	A549	lung:	n/a	n/a
21	EGR1	chr22:21982323-21984614	K562	blood:	n/a	chr22:21984287-21984301
22	MYC	chr22:21982938-21984709	MCF10A-Er-Src	breast:	n/a	chr22:21983157-21983167
23	EGR1	chr22:21982456-21984627	K562	blood:	n/a	chr22:21984287-21984301
24	TEAD4	chr22:21976201-21984706	K562	blood:	n/a	n/a
25	TBL1XR1	chr22:21982144-21984618	K562	blood:	n/a	n/a
26	TCF12	chr22:21983200-21984600	ECC-1	luminal epithelium:	n/a	chr22:21984404-21984411
27	MAX	chr22:21982437-21984581	K562	blood:	n/a	chr22:21983157-21983167
28	POLR2A	chr22:21982097-21984600	HL-60	blood:	n/a	n/a
29	USF1	chr22:21983226-21983943	K562	blood:	n/a	n/a
30	MAX	chr22:21983218-21984631	HepG2	liver:	n/a	n/a
31	RCOR1	chr22:21982149-21984632	K562	blood:	n/a	n/a
32	ELF1	chr22:21982356-21984668	GM12878	blood:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
33	MYC	chr22:21982151-21984642	K562	blood:	n/a	chr22:21983157-21983167
34	POLR2A	chr22:21982119-21984665	GM12878	blood:	n/a	n/a
35	MAX	chr22:21982300-21984665	HCT-116	colon:	n/a	chr22:21983157-21983167
36	ZNF274	chr22:21982130-21984497	K562	blood:	n/a	n/a
37	YY1	chr22:21982217-21984610	K562	blood:	n/a	chr22:21982804-21982821 chr22:21983179-21983190
38	SIN3AK20	chr22:21982270-21984611	K562	blood:	n/a	n/a
39	MAX	chr22:21983179-21984589	ECC-1	luminal epithelium:	n/a	n/a
40	FOXM1	chr22:21983170-21984034	GM12878	blood:	n/a	n/a
41	HCFC1	chr22:21983197-21984645	Hela-S3	cervix:	n/a	n/a
42	MYC	chr22:21982187-21984632	K562	blood:	n/a	chr22:21983157-21983167
43	ZNF263	chr22:21982428-21984479	K562	blood:	n/a	n/a
44	CTCF	chr22:21983238-21983930	MCF-7	breast:	n/a	n/a
45	NFIC	chr22:21983191-21983919	ECC-1	luminal epithelium:	n/a	n/a
46	SP1	chr22:21983118-21984649	K562	blood:	n/a	chr22:21983281-21983290 chr22:21984356-21984367 chr22:21984380-21984391 chr22:21983282-21983291 chr22:21983282-21983291 chr22:21983280-21983292
47	BHLHE40	chr22:21983184-21984616	GM12878	blood:	n/a	chr22:21984395-21984411
48	RAD21	chr22:21983147-21983531	K562	blood:	n/a	n/a
49	TEAD4	chr22:21977696-21986166	K562	blood:	n/a	n/a
50	POLR2A	chr22:21983176-21984508	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21269803..21271886-chr22:21982813..21985485,2	K562	blood:
2	chr22:20861847..20864398-chr22:21982192..21984735,3	K562	blood:
3	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:
4	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
5	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
6	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
7	chr22:21979602..21983329-chr22:22291845..22295097,4	K562	blood:
8	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
9	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
10	chr22:21368598..21370649-chr22:21982712..21985008,2	K562	blood:
11	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
12	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
13	chr22:21981633..21983674-chr6:27098645..27101130,2	K562	blood:
14	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
15	chr12:120728150..120730053-chr22:21983081..21985244,2	K562	blood:
16	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
17	chr22:19465446..19467625-chr22:21981920..21983974,2	K562	blood:
18	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:
19	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
20	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
21	chr1:11968224..11970573-chr22:21982926..21985851,3	K562	blood:
22	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:

Variant related genes	Relation type
CCDC116	TF binding region
ENSG00000206176	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000070010	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000099917	Chromatin interaction
ENSG00000093009	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000206140	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000099957	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000230513	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1034329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11089620	0.82[EUR][1000 genomes]
rs11089629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089637	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12158299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12169001	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12484550	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs131654	0.83[JPT][hapmap]
rs131656	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131658	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131659	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs131664	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140489	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140490	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140492	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140496	0.87[ASN][1000 genomes]
rs140498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1811069	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs181359	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs181360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs181361	0.88[EUR][1000 genomes]
rs181363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs181366	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070512	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256609	0.81[EUR][1000 genomes]
rs2266959	1.00[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2266961	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2266963	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2266964	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283789	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298428	1.00[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs2876971	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3747093	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4820091	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4821104	0.88[EUR][1000 genomes]
rs4821108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821114	0.89[EUR][1000 genomes]
rs4821116	1.00[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4821124	1.00[CEU][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs4821130	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749485	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749493	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749495	0.87[EUR][1000 genomes]
rs5749502	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs5754166	0.82[EUR][1000 genomes]
rs5754217	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754234	0.87[EUR][1000 genomes]
rs5754238	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5754295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754323	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754344	0.89[EUR][1000 genomes]
rs5754352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754387	1.00[CEU][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap]
rs5754422	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754426	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754467	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59391722	0.82[EUR][1000 genomes]
rs5994638	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998509	0.80[EUR][1000 genomes]
rs5998576	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998644	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998672	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66534072	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs710177	0.97[ASN][1000 genomes]
rs73166619	0.82[EUR][1000 genomes]
rs73166622	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73166630	0.86[EUR][1000 genomes]
rs73166632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs738127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs738128	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs738129	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7444	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7445	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8137950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8139079	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs861857	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs878825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9619386	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621715	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer 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	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv516806	chr22:21982892-21997070	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
15	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2298429	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL
rs2298429	UBE2L3	cis	lymphoblastoid	seeQTL
rs2298429	CCDC116	cis	Artery Tibial	GTEx
rs2298429	CCDC116	cis	lung	GTEx
rs2298429	UBE2L3	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21969000-21983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:21974000-21983400	Weak transcription	Fetal Kidney	kidney
3	chr22:21978400-21983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:21978400-21983400	Weak transcription	Fetal Lung	lung
5	chr22:21978800-21983400	Weak transcription	Aorta	Aorta
6	chr22:21979400-21983400	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:21979400-21983400	Weak transcription	HSMMtube	muscle
8	chr22:21979600-21983400	Weak transcription	Psoas Muscle	Psoas
9	chr22:21980000-21983400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:21980000-21983400	Weak transcription	Fetal Muscle Leg	muscle
11	chr22:21980600-21984800	Enhancers	Fetal Brain Male	brain
12	chr22:21980800-21983400	Transcr. at gene 5' and 3'	K562	blood
13	chr22:21981000-21983400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:21981200-21983400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:21981400-21984200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:21981600-21983400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:21981800-21983600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:21982200-21983400	Enhancers	Stomach Mucosa	stomach
19	chr22:21982200-21984200	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr22:21982400-21983400	Enhancers	Brain Angular Gyrus	brain
21	chr22:21982400-21983400	Genic enhancers	Fetal Thymus	thymus
22	chr22:21982400-21983400	Transcr. at gene 5' and 3'	A549	lung
23	chr22:21982400-21983800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:21982600-21983400	Enhancers	Liver	Liver
25	chr22:21982600-21983400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr22:21982600-21983400	Enhancers	NH-A	brain
27	chr22:21982600-21983600	Transcr. at gene 5' and 3'	NHEK	skin
28	chr22:21982600-21983800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
29	chr22:21982600-21983800	Flanking Active TSS	HMEC	breast
30	chr22:21982600-21984000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
31	chr22:21982600-21984400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:21982800-21983400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:21982800-21983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr22:21982800-21983400	Enhancers	Fetal Heart	heart
35	chr22:21982800-21983400	Enhancers	Placenta	Placenta
36	chr22:21982800-21983400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr22:21982800-21983600	Enhancers	Small Intestine	intestine
38	chr22:21982800-21984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr22:21982800-21984600	Active TSS	Fetal Brain Female	brain
40	chr22:21983000-21983400	Transcr. at gene 5' and 3'	Thymus	Thymus
41	chr22:21983000-21983600	Flanking Active TSS	Colonic Mucosa	Colon
42	chr22:21983000-21984000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:21983000-21984400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr22:21983000-21984400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr22:21983000-21984400	Active TSS	Fetal Intestine Large	intestine
46	chr22:21983000-21984600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:21983000-21984600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr22:21983000-21984600	Active TSS	Duodenum Mucosa	Duodenum
49	chr22:21983000-21984600	Active TSS	GM12878-XiMat	blood
50	chr22:21983000-21984600	Active TSS	Hela-S3	cervix

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