Variant report

Variant	rs13317601
Chromosome Location	chr3:21559129-21559130
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21558303..21559979-chr3:21581048..21584024,2	K562	blood:
2	chr3:21551694..21553640-chr3:21557602..21559224,2	K562	blood:

Variant related genes	Relation type
ENSG00000151789	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10510513	0.85[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457590	0.82[CHB][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162411	0.85[JPT][hapmap]
rs162412	0.85[JPT][hapmap]
rs163482	0.80[JPT][hapmap]
rs1978516	0.81[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983039	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2059400	0.96[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs233156	0.80[JPT][hapmap]
rs3843876	0.96[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs3860577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3860578	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858328	0.86[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs4858329	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs6789053	0.96[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7615120	0.91[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7637649	0.80[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7640256	0.84[EUR][1000 genomes]
rs7642500	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7646837	0.85[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9310648	0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs9310649	0.92[CEU][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9810352	0.96[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs9829496	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862072	0.80[JPT][hapmap]
rs9862207	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006471	chr3:21385627-21596955	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription 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	8 gene(s)	inside rSNPs	diseases
3	nsv1000828	chr3:21399870-21565580	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv536515	chr3:21399870-21565580	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr3:21515800-21563000	Weak transcription	Fetal Stomach	stomach
2	chr3:21550000-21561800	Weak transcription	Fetal Brain Male	brain
3	chr3:21553200-21574400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21558000-21559200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:21558000-21559200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:21558000-21559200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:21558000-21559200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:21558800-21559200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:21559000-21559600	Enhancers	Aorta	Aorta

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