Variant report

Variant	rs2569741
Chromosome Location	chr19:51374097-51374098
allele	C/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	CREB1	chr19:51373611-51374186	GM12878	blood:	n/a	chr19:51373839-51373852
2	REST	chr19:51373879-51374175	K562	blood:	n/a	chr19:51374026-51374035
3	CREB1	chr19:51373521-51374108	HepG2	liver:	n/a	chr19:51373839-51373852
4	POLR2A	chr19:51373652-51374105	K562	blood:	n/a	n/a
5	CTCF	chr19:51373524-51374240	SK-N-SH	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
6	SP1	chr19:51373621-51374143	A549	lung:	n/a	n/a
7	HCFC1	chr19:51373634-51374103	K562	blood:	n/a	n/a
8	NR2F2	chr19:51373687-51374170	K562	blood:	n/a	n/a
9	MYC	chr19:51373610-51374111	K562	blood:	n/a	n/a
10	MYC	chr19:51373624-51374117	K562	blood:	n/a	n/a
11	RAD21	chr19:51373738-51374126	A549	lung:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
12	CTCF	chr19:51373550-51374369	A549	lung:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
13	RAD21	chr19:51373749-51374116	H1-hESC	embryonic stem cell:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
14	RAD21	chr19:51373549-51374248	SK-N-SH	brain:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
15	RAD21	chr19:51373729-51374099	K562	blood:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
16	MAX	chr19:51373467-51374205	A549	lung:	n/a	n/a
17	YY1	chr19:51373697-51374121	K562	blood:	n/a	n/a
18	MAX	chr19:51373520-51374150	A549	lung:	n/a	n/a
19	CREB1	chr19:51373491-51374199	K562	blood:	n/a	chr19:51373839-51373852
20	CTCF	chr19:51373960-51374110	HL-60	blood:	n/a	n/a
21	SMC3	chr19:51373660-51374172	SK-N-SH	brain:	n/a	chr19:51373915-51373929 chr19:51373915-51373925
22	CREB1	chr19:51373534-51374164	GM12878	blood:	n/a	chr19:51373839-51373852
23	JUND	chr19:51373610-51374124	K562	blood:	n/a	chr19:51373841-51373850
24	CREB1	chr19:51373669-51374134	A549	lung:	n/a	chr19:51373839-51373852
25	MAZ	chr19:51373666-51374098	K562	blood:	n/a	n/a
26	CBX3	chr19:51373612-51374099	K562	blood:	n/a	n/a
27	GATA2	chr19:51373773-51374148	SH-SY5Y	brain:	n/a	n/a
28	ZC3H11A	chr19:51373727-51374177	K562	blood:	n/a	n/a
29	CBX3	chr19:51373255-51374198	K562	blood:	n/a	n/a
30	RAD21	chr19:51373683-51374099	H1-hESC	embryonic stem cell:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
31	CREB1	chr19:51373645-51374151	HepG2	liver:	n/a	chr19:51373839-51373852
32	GABPA	chr19:51373683-51374126	K562	blood:	n/a	chr19:51373741-51373750 chr19:51373739-51373750 chr19:51373736-51373750 chr19:51373739-51373753
33	CTCF	chr19:51373718-51374126	K562	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
34	CTCF	chr19:51373684-51374225	K562	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
35	GTF2F1	chr19:51373699-51374101	K562	blood:	n/a	n/a
36	SETDB1	chr19:51373664-51374317	K562	blood:	n/a	chr19:51373740-51373749
37	ATF1	chr19:51373622-51374098	K562	blood:	n/a	n/a
38	MAX	chr19:51373505-51374209	K562	blood:	n/a	n/a
39	TEAD4	chr19:51373569-51374168	K562	blood:	n/a	n/a
40	JUN	chr19:51372866-51374355	K562	blood:	n/a	chr19:51373837-51373850 chr19:51373841-51373850
41	CREB1	chr19:51373429-51374296	K562	blood:	n/a	chr19:51373839-51373852
42	SMC3	chr19:51373693-51374104	K562	blood:	n/a	chr19:51373915-51373929 chr19:51373915-51373925
43	RAD21	chr19:51373667-51374197	A549	lung:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
44	E2F6	chr19:51373623-51374097	K562	blood:	n/a	chr19:51373740-51373749 chr19:51373842-51373851 chr19:51373840-51373849 chr19:51373951-51373961

No.	Distal block	Cell Line	Cell type
1	chr19:51303704..51306185-chr19:51373080..51375734,4	K562	blood:
2	chr19:51339489..51342221-chr19:51372439..51375548,3	K562	blood:
3	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
4	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
5	chr19:51372696..51375845-chr19:51379331..51383690,4	K562	blood:
6	chr19:51373828..51375364-chr19:51376061..51378763,2	K562	blood:
7	chr19:51303704..51305752-chr19:51372094..51375734,4	K562	blood:
8	chr19:51292849..51296626-chr19:51372637..51375537,3	K562	blood:
9	chr19:51297152..51303261-chr19:51371696..51377038,8	K562	blood:
10	chr19:51306202..51308468-chr19:51372838..51375377,2	K562	blood:
11	chr19:51296429..51299323-chr19:51371370..51374659,5	K562	blood:

Variant related genes	Relation type
KLK2	TF binding region
ENSG00000221241	Chromatin interaction
ENSG00000142513	Chromatin interaction
ENSG00000220988	Chromatin interaction
ENSG00000267880	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000221381	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000268375	Chromatin interaction
ENSG00000167751	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1053972	0.80[ASN][1000 genomes]
rs11084034	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11084038	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084039	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670728	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12984214	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271095	0.91[JPT][hapmap]
rs2569738	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2739477	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760730	0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115062	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7260115	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv2531	chr19:51333628-51378597	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2763208	chr19:51361757-51377163	ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51373200-51374200	Bivalent/Poised TSS	A549	lung
2	chr19:51373400-51374200	Bivalent/Poised TSS	HepG2	liver
3	chr19:51373400-51374400	Flanking Active TSS	K562	blood
4	chr19:51373600-51374200	Enhancers	Placenta	Placenta

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