Variant report

Variant	rs2107588
Chromosome Location	chr7:16331468-16331469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16329621..16333476-chr7:16335490..16337666,4	K562	blood:
2	chr7:16319990..16321982-chr7:16331383..16333480,3	K562	blood:
3	chr7:16329930..16331923-chr7:16630143..16632289,2	K562	blood:
4	chr7:16328904..16333802-chr7:16457982..16461920,4	K562	blood:
5	chr7:16327520..16332381-chr7:16457982..16463009,5	K562	blood:
6	chr7:16308783..16311425-chr7:16329336..16331681,2	K562	blood:

Variant related genes	Relation type
ENSG00000229688	Chromatin interaction
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10238993	0.93[EUR][1000 genomes]
rs10251171	0.93[EUR][1000 genomes]
rs10259276	0.88[EUR][1000 genomes]
rs10260543	0.91[EUR][1000 genomes]
rs10464285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12699776	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17362810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17460723	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1921838	0.90[EUR][1000 genomes]
rs2107589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2158486	0.90[EUR][1000 genomes]
rs2158491	0.93[EUR][1000 genomes]
rs2189733	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2189735	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2389596	0.91[EUR][1000 genomes]
rs2389597	0.82[EUR][1000 genomes]
rs4537216	0.92[EUR][1000 genomes]
rs4719464	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4721487	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56076119	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56399830	0.90[EUR][1000 genomes]
rs59440007	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60710809	0.89[EUR][1000 genomes]
rs61694712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62440455	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62440456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62441091	0.89[EUR][1000 genomes]
rs62441879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62441882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62441888	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62441911	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441913	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441915	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441917	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441918	0.91[EUR][1000 genomes]
rs62441921	0.92[EUR][1000 genomes]
rs62441925	0.89[EUR][1000 genomes]
rs7805439	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16312400-16332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:16313600-16348200	Weak transcription	Gastric	stomach

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