Variant report

Variant	rs2298428
Chromosome Location	chr22:21982892-21982893
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	POLR2A	chr22:21982760-21984539	NB4	blood:	n/a	n/a
2	HMGN3	chr22:21982380-21984639	K562	blood:	n/a	n/a
3	POLR2A	chr22:21980580-21984939	K562	blood:	n/a	n/a
4	E2F6	chr22:21982481-21984627	K562	blood:	n/a	chr22:21983082-21983094
5	CTCF	chr22:21982333-21984660	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
6	CTCF	chr22:21982359-21984783	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
7	POLR2A	chr22:21982517-21983040	HCT-116	colon:	n/a	n/a
8	CTCF	chr22:21982357-21983089	T-47D	breast:	n/a	n/a
9	POLR2A	chr22:21982137-21984611	GM18505	blood:	n/a	n/a
10	EGR1	chr22:21982323-21984614	K562	blood:	n/a	chr22:21984287-21984301
11	EGR1	chr22:21982456-21984627	K562	blood:	n/a	chr22:21984287-21984301
12	TEAD4	chr22:21976201-21984706	K562	blood:	n/a	n/a
13	TBL1XR1	chr22:21982144-21984618	K562	blood:	n/a	n/a
14	CEBPB	chr22:21982219-21982951	K562	blood:	n/a	n/a
15	MAX	chr22:21982437-21984581	K562	blood:	n/a	chr22:21983157-21983167
16	POLR2A	chr22:21982097-21984600	HL-60	blood:	n/a	n/a
17	RCOR1	chr22:21982149-21984632	K562	blood:	n/a	n/a
18	ELF1	chr22:21982356-21984668	GM12878	blood:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
19	MYC	chr22:21982151-21984642	K562	blood:	n/a	chr22:21983157-21983167
20	POLR2A	chr22:21982119-21984665	GM12878	blood:	n/a	n/a
21	MAX	chr22:21982300-21984665	HCT-116	colon:	n/a	chr22:21983157-21983167
22	ZNF274	chr22:21982130-21984497	K562	blood:	n/a	n/a
23	YY1	chr22:21982217-21984610	K562	blood:	n/a	chr22:21982804-21982821 chr22:21983179-21983190
24	SIN3AK20	chr22:21982270-21984611	K562	blood:	n/a	n/a
25	MYC	chr22:21982187-21984632	K562	blood:	n/a	chr22:21983157-21983167
26	ZNF263	chr22:21982428-21984479	K562	blood:	n/a	n/a
27	POLR2A	chr22:21982178-21982903	MCF-7	breast:	n/a	n/a
28	TEAD4	chr22:21977696-21986166	K562	blood:	n/a	n/a
29	CTCF	chr22:21982442-21983142	K562	blood:	n/a	n/a
30	E2F6	chr22:21982369-21984608	K562	blood:	n/a	chr22:21983082-21983094
31	STAT5A	chr22:21982131-21983049	K562	blood:	n/a	n/a
32	E2F6	chr22:21982840-21984650	H1-hESC	embryonic stem cell:	n/a	chr22:21983082-21983094
33	SP2	chr22:21982063-21984633	K562	blood:	n/a	n/a
34	SETDB1	chr22:21982294-21984538	K562	blood:	n/a	n/a
35	CTCFL	chr22:21982774-21983141	K562	blood:	n/a	n/a
36	UBTF	chr22:21982472-21984620	K562	blood:	n/a	n/a
37	POLR2A	chr22:21982104-21984651	GM12892	blood:	n/a	n/a
38	MAX	chr22:21982496-21984635	NB4	blood:	n/a	chr22:21983157-21983167
39	ATF3	chr22:21982117-21984616	K562	blood:	n/a	chr22:21983281-21983290
40	CBX3	chr22:21982035-21985920	K562	blood:	n/a	chr22:21985726-21985737
41	POLR2A	chr22:21982232-21984611	Hela-S3	cervix:	n/a	n/a
42	RFX5	chr22:21982277-21984589	K562	blood:	n/a	n/a
43	REST	chr22:21982061-21984606	K562	blood:	n/a	chr22:21982195-21982208
44	SRF	chr22:21982844-21984560	K562	blood:	n/a	n/a
45	HEY1	chr22:21977795-21984628	K562	blood:	n/a	n/a
46	RAD21	chr22:21982737-21983103	K562	blood:	n/a	n/a
47	POLR2A	chr22:21976269-21982981	A549	lung:	n/a	n/a
48	CTCFL	chr22:21982356-21984591	K562	blood:	n/a	n/a
49	POLR2A	chr22:21976223-21984606	K562	blood:	n/a	n/a
50	ZNF384	chr22:21982699-21983066	K562	blood:	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	chr22:21981138..21983094-chr22:22301398..22303697,2	K562	blood:
5	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
6	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
7	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
8	chr22:21979602..21983329-chr22:22291845..22295097,4	K562	blood:
9	chr22:21353932..21358932-chr22:21981928..21985927,5	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	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
16	chr22:19465446..19467625-chr22:21981920..21983974,2	K562	blood:
17	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:
18	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
19	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
20	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:

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

Extended variants
information (count: 100 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1034329	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11089620	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089629	1.00[CEU][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs11089637	0.84[CEU][hapmap]
rs12158299	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168958	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12169001	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12484550	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131656	0.87[AMR][1000 genomes]
rs131658	0.81[EUR][1000 genomes]
rs131664	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs131665	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs140489	1.00[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs140490	0.82[EUR][1000 genomes]
rs140491	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs140492	1.00[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs140498	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs140499	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1811069	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181359	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181360	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181361	0.81[EUR][1000 genomes]
rs181363	0.84[EUR][1000 genomes]
rs181366	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2070512	1.00[CEU][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2256609	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266959	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266963	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266964	0.89[EUR][1000 genomes]
rs2283789	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283790	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2298429	1.00[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs2876971	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3747093	0.81[EUR][1000 genomes]
rs4820091	0.84[CEU][hapmap]
rs4821104	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821108	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821112	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821114	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821116	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4821130	0.92[CEU][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749485	0.87[EUR][1000 genomes]
rs5749493	0.87[EUR][1000 genomes]
rs5749495	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754100	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5754102	0.84[AMR][1000 genomes]
rs5754166	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754177	0.88[AMR][1000 genomes]
rs5754217	1.00[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs5754234	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754238	0.87[EUR][1000 genomes]
rs5754295	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754323	0.89[EUR][1000 genomes]
rs5754344	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754352	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754387	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs5754422	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754426	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754467	0.92[CEU][hapmap];0.92[MEX][hapmap]
rs59391722	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5994638	0.87[EUR][1000 genomes]
rs5998509	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998576	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5998599	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998619	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998644	0.89[EUR][1000 genomes]
rs5998672	1.00[CEU][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs66534072	0.85[EUR][1000 genomes]
rs73166619	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73166622	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73166630	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73166632	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs738127	1.00[CEU][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs738128	0.83[EUR][1000 genomes]
rs7444	1.00[CEU][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7445	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8137950	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8139079	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8139142	0.88[GIH][hapmap];0.81[JPT][hapmap]
rs878825	1.00[CEU][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9619386	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9621715	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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

Variant related diseases (count:2)

Disease	PMID	Source
Celiac disease or Rheumatoid arthritis	21383967	GWAS catalog
Celiac disease	20190752	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2298428	CCDC116	cis	lung	GTEx
rs2298428	CCDC116	cis	Nerve Tibial	GTEx
rs2298428	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL
rs2298428	UBE2L3	cis	multi-tissue	Pritchard
rs2298428	UBE2L3	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:21969000-21983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:21974000-21983400	Weak transcription	Fetal Kidney	kidney
4	chr22:21976800-21983200	Weak transcription	Ovary	ovary
5	chr22:21976800-21983200	Weak transcription	HSMM	muscle
6	chr22:21977000-21983200	Weak transcription	NHDF-Ad	bronchial
7	chr22:21977600-21983200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:21977800-21983000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:21978000-21983200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:21978000-21983200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:21978200-21983200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr22:21978400-21983200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:21978400-21983200	Weak transcription	Osteobl	bone
14	chr22:21978400-21983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:21978400-21983400	Weak transcription	Fetal Lung	lung
16	chr22:21978800-21983200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr22:21978800-21983400	Weak transcription	Aorta	Aorta
18	chr22:21979000-21983200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:21979200-21983200	Strong transcription	Fetal Stomach	stomach
20	chr22:21979400-21983200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:21979400-21983200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:21979400-21983400	Weak transcription	Colon Smooth Muscle	Colon
23	chr22:21979400-21983400	Weak transcription	HSMMtube	muscle
24	chr22:21979600-21983200	Weak transcription	Adipose Nuclei	Adipose
25	chr22:21979600-21983200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:21979600-21983400	Weak transcription	Psoas Muscle	Psoas
27	chr22:21979800-21983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:21979800-21983200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr22:21980000-21983200	Weak transcription	Left Ventricle	heart
30	chr22:21980000-21983400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:21980000-21983400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:21980200-21983200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:21980600-21983200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr22:21980600-21984800	Enhancers	Fetal Brain Male	brain
35	chr22:21980800-21983000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr22:21980800-21983200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:21980800-21983400	Transcr. at gene 5' and 3'	K562	blood
38	chr22:21981000-21983200	Genic enhancers	Pancreas	Pancrea
39	chr22:21981000-21983200	Genic enhancers	Spleen	Spleen
40	chr22:21981000-21983400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:21981200-21983200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:21981200-21983400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:21981400-21983000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:21981400-21983000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr22:21981400-21983200	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:21981400-21983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:21981400-21983200	Strong transcription	Right Atrium	heart
48	chr22:21981400-21984200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:21981600-21983000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:21981600-21983000	Genic enhancers	Rectal Mucosa Donor 29	rectum

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