Variant report

Variant	rs1654514
Chromosome Location	chr19:51400044-51400045
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	USF2	chr19:51399820-51401101	GM12878	blood:	n/a	n/a
2	USF1	chr19:51399974-51400302	SK-N-SH	brain:	n/a	n/a
3	POU2F2	chr19:51399676-51400538	GM12891	blood:	n/a	n/a
4	RELA	chr19:51399813-51401112	GM18526	blood:	n/a	n/a
5	JUND	chr19:51399864-51400380	K562	blood:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400072-51400083 chr19:51400031-51400040 chr19:51400073-51400082
6	MYC	chr19:51399944-51400246	K562	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
7	MEF2A	chr19:51399716-51400472	GM12878	blood:	n/a	chr19:51400074-51400082
8	FOSL1	chr19:51399958-51400225	K562	blood:	n/a	chr19:51400072-51400083 chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400031-51400040 chr19:51400073-51400082
9	TBP	chr19:51399741-51400985	GM12878	blood:	n/a	n/a
10	TAL1	chr19:51399930-51400261	K562	blood:	n/a	n/a
11	MAZ	chr19:51399939-51400200	K562	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
12	CEBPB	chr19:51399685-51400979	GM12878	blood:	n/a	n/a
13	MYC	chr19:51399953-51400138	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
14	USF1	chr19:51399854-51400197	GM12878	blood:	n/a	n/a
15	TCF12	chr19:51399835-51400194	GM12878	blood:	n/a	n/a
16	KAP1	chr19:51399852-51400365	HEK293	kidney:	n/a	n/a
17	MXI1	chr19:51399745-51401061	GM12878	blood:	n/a	n/a
18	EP300	chr19:51399783-51401081	GM12878	blood:	n/a	chr19:51400074-51400083
19	POU2F2	chr19:51399768-51400174	GM12878	blood:	n/a	n/a
20	YY1	chr19:51399772-51400178	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:51399689-51400244	GM12891	blood:	n/a	n/a
22	FOXM1	chr19:51399719-51400928	GM12878	blood:	n/a	n/a
23	ATF3	chr19:51399736-51400350	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:51399731-51400347	GM12878	blood:	n/a	n/a
25	ZMIZ1	chr19:51399992-51400150	K562	blood:	n/a	n/a
26	MAX	chr19:51399793-51400400	HCT-116	colon:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
27	RELA	chr19:51399839-51401122	GM19099	blood:	n/a	n/a
28	EBF1	chr19:51399732-51401194	GM12878	blood:	n/a	n/a
29	MTA3	chr19:51399720-51401135	GM12878	blood:	n/a	n/a
30	EP300	chr19:51399719-51401397	GM12878	blood:	n/a	chr19:51400074-51400083
31	ATF3	chr19:51399865-51400288	K562	blood:	n/a	n/a
32	MEF2C	chr19:51399824-51400791	GM12878	blood:	n/a	chr19:51400074-51400082
33	MAX	chr19:51399799-51401112	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
34	CTCF	chr19:51399865-51400228	GM12878	blood:	n/a	n/a
35	ATF2	chr19:51399748-51400831	GM12878	blood:	n/a	n/a
36	RUNX3	chr19:51399667-51401253	GM12878	blood:	n/a	chr19:51400137-51400146
37	RCOR1	chr19:51399940-51400228	K562	blood:	n/a	n/a
38	POLR2A	chr19:51399766-51400110	GM12878	blood:	n/a	n/a
39	POU2F2	chr19:51399728-51400408	GM12891	blood:	n/a	n/a
40	PAX5	chr19:51399691-51400397	GM12878	blood:	n/a	chr19:51400035-51400052 chr19:51400036-51400054 chr19:51400035-51400054
41	USF1	chr19:51399739-51400400	HCT-116	colon:	n/a	n/a
42	SETDB1	chr19:51399719-51400418	U2OS	brain:	n/a	n/a
43	ARID3A	chr19:51400033-51400332	K562	blood:	n/a	n/a
44	POLR2A	chr19:51399903-51400059	GM12878	blood:	n/a	n/a
45	JUND	chr19:51399731-51400334	HCT-116	colon:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400072-51400083 chr19:51400031-51400040 chr19:51400073-51400082
46	BATF	chr19:51399841-51400784	GM12878	blood:	n/a	n/a
47	USF1	chr19:51399766-51400405	HCT-116	colon:	n/a	n/a
48	TBP	chr19:51399764-51400098	K562	blood:	n/a	n/a
49	FOXM1	chr19:51399672-51400874	GM12878	blood:	n/a	n/a
50	BCL3	chr19:51399741-51400491	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51305899..51307746-chr19:51399929..51401731,2	K562	blood:
2	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:
3	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:
4	chr19:51306246..51308382-chr19:51400037..51401731,2	K562	blood:

Variant related genes	Relation type
KLKP1	TF binding region
ENSG00000167747	Chromatin interaction
ENSG00000167749	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1560723	0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs1701934	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51397600-51400600	Enhancers	K562	blood
2	chr19:51399400-51400200	Enhancers	GM12878-XiMat	blood
3	chr19:51399400-51401400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:51399800-51400400	Enhancers	HSMMtube	muscle
5	chr19:51399800-51401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:51399800-51401600	Enhancers	HMEC	breast
8	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:51400000-51400800	Enhancers	NHEK	skin

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