Variant report

Variant	rs4884249
Chromosome Location	chr13:53296671-53296672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1370081	0.87[AFR][1000 genomes]
rs1436724	0.87[LWK][hapmap]
rs2118093	0.87[LWK][hapmap]
rs2408657	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2760779	0.87[AFR][1000 genomes]
rs4242994	1.00[AFR][1000 genomes]
rs4242995	1.00[AFR][1000 genomes]
rs4242997	1.00[AFR][1000 genomes]
rs4338683	1.00[AFR][1000 genomes]
rs4539485	0.87[LWK][hapmap]
rs4551925	1.00[AFR][1000 genomes]
rs4884247	1.00[AFR][1000 genomes]
rs4885887	0.87[LWK][hapmap]
rs619222	0.87[AFR][1000 genomes]
rs6420307	1.00[AFR][1000 genomes]
rs6561685	1.00[YRI][hapmap]
rs6561686	0.87[LWK][hapmap]
rs7324108	1.00[ASW][hapmap]
rs7335091	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7338913	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs7984073	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7992760	1.00[AFR][1000 genomes]
rs7994615	1.00[AFR][1000 genomes]
rs893069	1.00[AFR][1000 genomes]
rs9316580	1.00[YRI][hapmap]
rs9316581	0.87[LWK][hapmap]
rs9536250	1.00[YRI][hapmap]
rs973198	0.87[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
2	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:53272400-53297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:53286800-53310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:53294200-53297200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr13:53294400-53297000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr13:53294400-53297200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:53294600-53296800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr13:53294800-53297400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr13:53295200-53298400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:53295800-53298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:53295800-53301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:53296200-53298400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:53296400-53298200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr13:53296600-53296800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:53296600-53297000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:53296600-53299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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