Variant report

Variant	rs60628785
Chromosome Location	chr19:40191850-40191851
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:40191848-40192033	GM12878	blood:	n/a	n/a
2	RUNX3	chr19:40191730-40192366	GM12878	blood:	n/a	n/a
3	SPI1	chr19:40191776-40192306	GM12891	blood:	n/a	n/a
4	ATF2	chr19:40191755-40192297	GM12878	blood:	n/a	n/a
5	MTA3	chr19:40191628-40192524	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:40191606-40192253	GM12878	blood:	n/a	n/a
7	RCOR1	chr19:40191835-40192609	GM12878	blood:	n/a	n/a
8	RUNX3	chr19:40191796-40192423	GM12878	blood:	n/a	n/a
9	FOXM1	chr19:40191822-40192432	GM12878	blood:	n/a	n/a
10	STAT5A	chr19:40191651-40192382	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:40191747-40192323	GM12891	blood:	n/a	n/a
12	ATF2	chr19:40191735-40192471	GM12878	blood:	n/a	n/a
13	MXI1	chr19:40191849-40192239	GM12878	blood:	n/a	n/a
14	SPI1	chr19:40191833-40192332	GM12878	blood:	n/a	n/a
15	NFIC	chr19:40191841-40192497	GM12878	blood:	n/a	n/a
16	SPI1	chr19:40191845-40192374	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:40191836-40192063	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:40191668-40192226	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:40191831-40192074	GM12891	blood:	n/a	n/a
20	POU2F2	chr19:40191718-40192279	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:40191719-40192268	GM12892	blood:	n/a	n/a
22	BCLAF1	chr19:40191657-40192395	GM12878	blood:	n/a	n/a
23	PAX5	chr19:40191829-40192357	GM12878	blood:	n/a	n/a
24	POU2F2	chr19:40191782-40192386	GM12878	blood:	n/a	n/a
25	NFIC	chr19:40191694-40192337	GM12878	blood:	n/a	n/a
26	PML	chr19:40191781-40192338	GM12878	blood:	n/a	n/a
27	FOXM1	chr19:40191745-40192501	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:40191828-40192148	GM12891	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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10402453	1.00[ASN][1000 genomes]
rs10415800	1.00[ASN][1000 genomes]
rs10416515	1.00[ASN][1000 genomes]
rs16973571	1.00[ASN][1000 genomes]
rs16973572	1.00[ASN][1000 genomes]
rs2159562	0.83[EUR][1000 genomes]
rs56960663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205516	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57758462	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58988184	1.00[ASN][1000 genomes]
rs59155776	1.00[ASN][1000 genomes]
rs59747400	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60676487	1.00[ASN][1000 genomes]
rs61346225	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61737337	1.00[ASN][1000 genomes]
rs73557810	1.00[ASN][1000 genomes]
rs73557829	1.00[ASN][1000 genomes]
rs73557849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73557862	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73557894	1.00[ASN][1000 genomes]
rs8104205	1.00[ASN][1000 genomes]
rs8107384	1.00[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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links