Variant report

Variant	rs16999554
Chromosome Location	chr19:22877694-22877695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22877640-22877790	Caco-2	colon:	n/a	n/a
2	BCL11A	chr19:22877558-22877746	GM12878	blood:	n/a	n/a
3	SIX5	chr19:22877540-22877742	K562	blood:	n/a	n/a
4	JUND	chr19:22877579-22877707	HepG2	liver:	n/a	n/a
5	FOSL2	chr19:22877514-22877940	HepG2	liver:	n/a	n/a
6	PAX5	chr19:22877559-22877789	GM12878	blood:	n/a	n/a
7	GABPA	chr19:22877581-22877705	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr19:22877480-22877739	K562	blood:	n/a	n/a
9	EBF1	chr19:22877555-22877744	GM12878	blood:	n/a	n/a
10	PAX5	chr19:22877539-22877830	GM12878	blood:	n/a	n/a
11	USF1	chr19:22877575-22877707	HepG2	liver:	n/a	n/a
12	POU2F2	chr19:22877481-22877840	GM12878	blood:	n/a	n/a
13	CEBPD	chr19:22877549-22877815	K562	blood:	n/a	n/a
14	POLR2A	chr19:22877561-22877720	H1-hESC	embryonic stem cell:	n/a	n/a
15	UBTF	chr19:22877490-22877859	K562	blood:	n/a	n/a
16	POU2F2	chr19:22877546-22877708	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr19:22877558-22877744	HepG2	liver:	n/a	n/a
18	TCF12	chr19:22877554-22877730	GM12878	blood:	n/a	n/a
19	ZBTB33	chr19:22877531-22877761	GM12878	blood:	n/a	n/a
20	ZBTB33	chr19:22877578-22877706	HepG2	liver:	n/a	n/a
21	UBTF	chr19:22877490-22877859	K562	blood:	n/a	n/a
22	YY1	chr19:22877565-22877725	A549	lung:	n/a	n/a
23	TAF1	chr19:22877563-22877720	Hela-S3	cervix:	n/a	n/a
24	GTF2F1	chr19:22877491-22877859	H1-hESC	embryonic stem cell:	n/a	n/a
25	RXRA	chr19:22877497-22877938	HepG2	liver:	n/a	n/a
26	ZBTB33	chr19:22877412-22877869	HepG2	liver:	n/a	n/a
27	JUND	chr19:22877559-22877729	HepG2	liver:	n/a	n/a
28	SP1	chr19:22877529-22877752	GM12878	blood:	n/a	n/a
29	EBF1	chr19:22877548-22877737	GM12878	blood:	n/a	n/a
30	ATF1	chr19:22877658-22877858	K562	blood:	n/a	n/a
31	BCL11A	chr19:22877505-22877742	GM12878	blood:	n/a	n/a
32	ZBTB33	chr19:22877527-22877756	K562	blood:	n/a	n/a
33	FOXP2	chr19:22877507-22877870	SK-N-MC	brain:	n/a	n/a
34	PAX5	chr19:22877566-22877719	GM12878	blood:	n/a	n/a
35	PAX5	chr19:22877505-22877817	GM12878	blood:	n/a	n/a
36	FOSL2	chr19:22877512-22877740	HepG2	liver:	n/a	n/a
37	EP300	chr19:22877535-22877813	GM12878	blood:	n/a	n/a
38	GATA2	chr19:22877537-22877748	K562	blood:	n/a	n/a
39	TAF1	chr19:22877552-22877731	Hela-S3	cervix:	n/a	n/a
40	PBX3	chr19:22877575-22877742	GM12878	blood:	n/a	n/a
41	BATF	chr19:22877551-22877732	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr19:22877582-22877702	HepG2	liver:	n/a	n/a
43	SP1	chr19:22877588-22877698	HepG2	liver:	n/a	n/a
44	TCF12	chr19:22877560-22877723	GM12878	blood:	n/a	n/a
45	RXRA	chr19:22877456-22877827	HepG2	liver:	n/a	n/a
46	POU2F2	chr19:22877579-22877783	GM12878	blood:	n/a	n/a
47	USF1	chr19:22877575-22877708	HepG2	liver:	n/a	n/a
48	POU5F1	chr19:22877563-22877759	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF3	chr19:22877538-22877748	GM12878	blood:	n/a	n/a
50	FOXA2	chr19:22877531-22877987	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
RPL34P33	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12973264	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12973627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12974117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12974988	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12975027	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12978794	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12979264	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12983745	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12983973	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16999598	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864004	0.90[CEU][hapmap]
rs2194112	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2361023	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs34057949	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34264813	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34425596	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3925175	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244915	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4244916	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4933023	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4933024	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4933026	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4933031	0.90[CEU][hapmap]
rs4933032	0.90[CEU][hapmap]
rs4933036	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4933038	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55675097	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55716469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56110985	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56224405	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56276210	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56356904	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56384546	0.82[ASN][1000 genomes]
rs58880850	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs597906	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61328620	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62118857	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62120125	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62120298	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511373	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511383	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71357920	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245634	0.90[CEU][hapmap]
rs7246424	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247191	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7249685	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254563	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7257236	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257255	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257333	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258337	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8102469	0.90[CEU][hapmap]
rs8103204	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8103875	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104327	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8104552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8104564	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105596	0.89[CEU][hapmap]
rs8107724	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8108452	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8112803	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360126	chr19:22209871-23199213	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3333410	chr19:22213338-23199725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv525240	chr19:22250912-23216667	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
4	esv3363663	chr19:22320301-23103053	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv911440	chr19:22325391-23216667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
6	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv911443	chr19:22338142-22899585	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv911444	chr19:22338142-23198437	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv911445	chr19:22346403-22899585	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv819205	chr19:22346403-23199700	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv1064071	chr19:22359491-23153773	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
12	nsv543957	chr19:22359491-23153773	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv932157	chr19:22359492-23192975	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
14	esv3387241	chr19:22383621-23175441	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
15	nsv1059925	chr19:22408435-23083293	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
16	nsv1056393	chr19:22408435-23106126	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
17	esv3496801	chr19:22635989-23028182	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	esv3496802	chr19:22635989-23028182	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	nsv1062447	chr19:22818831-22879285	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv911451	chr19:22826728-23198437	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
21	esv3503765	chr19:22850747-23076590	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	esv3503766	chr19:22850747-23076590	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22877400-22877800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:22877400-22877800	ZNF genes & repeats	Dnd41	blood

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