Variant report

Variant	rs28468590
Chromosome Location	chr7:16334529-16334530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16328727..16330491-chr7:16332176..16334941,2	K562	blood:
2	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
3	chr7:16333997..16336395-chr7:16337300..16340770,3	K562	blood:
4	chr7:16332474..16335082-chr7:16341108..16343730,3	K562	blood:
5	chr7:16333754..16335349-chr7:16345715..16348508,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245613	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250496	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251007	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251027	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261486	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278547	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11974846	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17169409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17169410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17169415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28793604	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4517017	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665993	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57850085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682121	0.81[AFR][1000 genomes]
rs73684122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
3	chr7:16333600-16336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16334200-16335400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:16334200-16335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:16334400-16336000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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