Variant report

Variant	rs56261485
Chromosome Location	chr19:40191978-40191979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr19:40191912-40192247	GM12878	blood:	n/a	n/a
2	MAZ	chr19:40191848-40192033	GM12878	blood:	n/a	n/a
3	POU2F2	chr19:40191864-40192304	GM12891	blood:	n/a	n/a
4	RUNX3	chr19:40191730-40192366	GM12878	blood:	n/a	n/a
5	PAX5	chr19:40191959-40192188	GM12878	blood:	n/a	n/a
6	SPI1	chr19:40191776-40192306	GM12891	blood:	n/a	n/a
7	ATF2	chr19:40191755-40192297	GM12878	blood:	n/a	n/a
8	MTA3	chr19:40191628-40192524	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:40191606-40192253	GM12878	blood:	n/a	n/a
10	RCOR1	chr19:40191835-40192609	GM12878	blood:	n/a	n/a
11	RUNX3	chr19:40191796-40192423	GM12878	blood:	n/a	n/a
12	MEF2A	chr19:40191900-40192452	GM12878	blood:	n/a	n/a
13	FOXM1	chr19:40191822-40192432	GM12878	blood:	n/a	n/a
14	STAT5A	chr19:40191651-40192382	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:40191747-40192323	GM12891	blood:	n/a	n/a
16	PAX5	chr19:40191938-40192261	GM12878	blood:	n/a	n/a
17	SPI1	chr19:40191903-40192175	GM12878	blood:	n/a	n/a
18	EBF1	chr19:40191948-40192358	GM12878	blood:	n/a	n/a
19	ATF2	chr19:40191735-40192471	GM12878	blood:	n/a	n/a
20	EBF1	chr19:40191951-40192274	GM12878	blood:	n/a	n/a
21	EBF1	chr19:40191971-40192404	GM12878	blood:	n/a	n/a
22	MXI1	chr19:40191849-40192239	GM12878	blood:	n/a	n/a
23	ZNF384	chr19:40191875-40192230	GM12878	blood:	n/a	n/a
24	SPI1	chr19:40191833-40192332	GM12878	blood:	n/a	n/a
25	NFIC	chr19:40191841-40192497	GM12878	blood:	n/a	n/a
26	SMC3	chr19:40191944-40192223	GM12878	blood:	n/a	n/a
27	SPI1	chr19:40191845-40192374	GM12891	blood:	n/a	n/a
28	EP300	chr19:40191912-40192431	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:40191836-40192063	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:40191668-40192226	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:40191831-40192074	GM12891	blood:	n/a	n/a
32	POU2F2	chr19:40191718-40192279	GM12891	blood:	n/a	n/a
33	POLR2A	chr19:40191719-40192268	GM12892	blood:	n/a	n/a
34	TBL1XR1	chr19:40191869-40192200	GM12878	blood:	n/a	n/a
35	BCLAF1	chr19:40191657-40192395	GM12878	blood:	n/a	n/a
36	MAX	chr19:40191944-40192338	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:40191938-40192401	GM12878	blood:	n/a	n/a
38	IRF4	chr19:40191902-40192367	GM12878	blood:	n/a	n/a
39	POU2F2	chr19:40191902-40192283	GM12878	blood:	n/a	n/a
40	PAX5	chr19:40191934-40192226	GM12878	blood:	n/a	n/a
41	PAX5	chr19:40191829-40192357	GM12878	blood:	n/a	n/a
42	POU2F2	chr19:40191782-40192386	GM12878	blood:	n/a	n/a
43	SP1	chr19:40191889-40192290	GM12878	blood:	n/a	n/a
44	NFIC	chr19:40191694-40192337	GM12878	blood:	n/a	n/a
45	PML	chr19:40191881-40192129	GM12878	blood:	n/a	n/a
46	PML	chr19:40191781-40192338	GM12878	blood:	n/a	n/a
47	FOXM1	chr19:40191745-40192501	GM12878	blood:	n/a	n/a
48	TBP	chr19:40191864-40192448	GM12878	blood:	n/a	n/a
49	BCL3	chr19:40191856-40192273	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:40191853-40192047	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40191402..40192980-chr19:40193546..40196170,2	K562	blood:

No data

Variant related genes	Relation type
LGALS14	TF binding region
ENSG00000006659	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10421474	0.92[ASN][1000 genomes]
rs11083534	0.83[EUR][1000 genomes]
rs11083535	0.86[ASN][1000 genomes]
rs11666142	0.86[ASN][1000 genomes]
rs11666190	0.86[ASN][1000 genomes]
rs11666517	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11669501	0.86[ASN][1000 genomes]
rs11669658	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11878990	0.85[ASN][1000 genomes]
rs11879130	0.85[ASN][1000 genomes]
rs11883181	0.86[ASN][1000 genomes]
rs12609196	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12610197	0.86[ASN][1000 genomes]
rs12610386	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12610398	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610904	0.86[ASN][1000 genomes]
rs12611052	0.85[ASN][1000 genomes]
rs12611097	0.85[ASN][1000 genomes]
rs12611334	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16973570	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17641958	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17709242	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1985359	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286757	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355335	0.92[ASN][1000 genomes]
rs28816119	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35332571	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386545	0.95[ASN][1000 genomes]
rs3922304	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4141230	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141231	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4629090	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55678764	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55850506	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56205202	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56243473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56346568	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56400901	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59097080	0.86[ASN][1000 genomes]
rs61208282	0.85[ASN][1000 genomes]
rs62121666	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121667	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121738	0.88[ASN][1000 genomes]
rs62121739	0.85[ASN][1000 genomes]
rs62121741	0.86[ASN][1000 genomes]
rs62121742	0.86[ASN][1000 genomes]
rs62121748	0.85[ASN][1000 genomes]
rs62121749	0.85[ASN][1000 genomes]
rs62121750	0.81[ASN][1000 genomes]
rs6508902	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6508905	0.85[ASN][1000 genomes]
rs718798	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718799	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7248546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257941	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73036596	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73036598	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7507315	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8100721	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8109921	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110945	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8112007	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978671	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3397881	chr19:40150495-40199437	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr19:40188400-40192800	Weak transcription	Placenta	Placenta
2	chr19:40191600-40192800	Flanking Active TSS	GM12878-XiMat	blood

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