Variant report

Variant	rs16969027
Chromosome Location	chr15:77930952-77930953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77927989..77932022-chr15:77933693..77937176,6	K562	blood:
2	chr15:77924201..77925801-chr15:77929261..77931789,2	K562	blood:
3	chr15:77930337..77932022-chr15:77933693..77936682,2	K562	blood:
4	chr15:77930274..77931928-chr15:77947580..77949219,2	K562	blood:
5	chr15:77929818..77931904-chr15:77938499..77941126,2	K562	blood:
6	chr15:77926698..77928808-chr15:77930384..77933338,2	K562	blood:

Variant related genes	Relation type
ENSG00000169783	Chromatin interaction
ENSG00000259666	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11630768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634778	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11635239	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11638318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856978	0.90[CHB][hapmap]
rs11857045	0.91[CHB][hapmap]
rs13329256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13329323	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877292	0.86[JPT][hapmap]
rs1877294	0.83[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs1877295	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1877298	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2292415	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292416	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292417	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28374408	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503184	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515899	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56717248	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56941158	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886924	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7165679	0.83[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs7171716	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs74025333	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74025334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74025342	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74025352	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8024724	0.91[CHB][hapmap]
rs8024932	0.83[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap]
rs8026164	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs8026671	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027456	0.91[CHB][hapmap]
rs8028788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652488	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9920101	0.83[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap]
rs9920113	0.91[CHB][hapmap]
rs9920127	0.83[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs9920132	0.90[GIH][hapmap];0.81[JPT][hapmap]
rs9920134	0.91[CHB][hapmap]
rs9920869	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs9972481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];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	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904419	chr15:77897197-77943935	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77927200-77940600	Weak transcription	Right Atrium	heart
2	chr15:77928600-77934800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:77929800-77931400	Weak transcription	Spleen	Spleen
4	chr15:77930000-77931000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr15:77930200-77931200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr15:77930200-77931200	Enhancers	Ovary	ovary
7	chr15:77930600-77933200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:77930600-77935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:77930600-77936200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:77930800-77933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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