Variant report

Variant	rs1542158
Chromosome Location	chr13:92425008-92425009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91996442..92000452-chr13:92423521..92427515,3	K562	blood:
2	chr13:92008654..92011622-chr13:92423601..92425301,2	K562	blood:
3	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
4	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
5	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:
6	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1445396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1445397	0.89[EUR][1000 genomes]
rs1537027	1.00[CHB][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap]
rs2183865	0.89[EUR][1000 genomes]
rs342698	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs342699	0.82[CHB][hapmap]
rs342700	0.82[CHB][hapmap]
rs342703	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs342705	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs4470023	0.85[CHB][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap]
rs472095	0.82[CHB][hapmap]
rs4773648	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs481064	0.82[CHB][hapmap]
rs483826	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs505246	0.82[CHB][hapmap]
rs548544	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs7986386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs7995950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9301750	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs9515971	0.92[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9515980	0.92[CEU][hapmap]
rs9523406	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9523408	0.83[EUR][1000 genomes]
rs9523410	0.92[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs9523412	0.82[EUR][1000 genomes]
rs9523423	0.82[EUR][1000 genomes]
rs9560854	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv524271	chr13:92419769-92501664	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv562720	chr13:92419769-92501664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1036226	chr13:92421721-92501284	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053048	chr13:92421721-92501558	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1053597	chr13:92421721-92502205	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 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	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:92424800-92425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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