Variant report

Variant	rs386059
Chromosome Location	chr7:137997391-137997392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137995053..137999099-chr7:138144129..138146392,3	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035329	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11536612	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12707380	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1691717	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs357370	0.83[EUR][1000 genomes]
rs357374	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs357375	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs357380	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs357387	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs357419	0.82[EUR][1000 genomes]
rs357434	0.80[ASN][1000 genomes]
rs357436	0.80[ASN][1000 genomes]
rs357439	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs357444	0.90[EUR][1000 genomes]
rs357452	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs357453	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368043	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs368370	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373089	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376305	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs378745	0.88[EUR][1000 genomes]
rs396783	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs401454	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402615	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403675	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407702	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs409365	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410156	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs410187	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs414919	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs424197	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs424335	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs424847	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443184	0.87[EUR][1000 genomes];0.84[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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029101	chr7:137952620-138005671	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv5967	chr7:137988239-138015844	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv499698	chr7:137991842-138004097	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3501160	chr7:137994762-137997460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1830022	chr7:137995522-137998746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137988600-137999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:137992800-137998600	Weak transcription	Placenta	Placenta
3	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:137995400-137998600	Weak transcription	HepG2	liver

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