Variant report

Variant	rs392162
Chromosome Location	chr7:137999654-137999655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137926916..137928434-chr7:137998152..138000341,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11983566	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1643164	0.92[ASN][1000 genomes]
rs357371	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs357372	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs357381	0.92[ASN][1000 genomes]
rs357382	0.91[ASN][1000 genomes]
rs357383	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs357386	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs357411	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs357412	0.84[ASN][1000 genomes]
rs357414	0.86[ASN][1000 genomes]
rs357421	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs357427	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs357428	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs357435	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs357437	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs357445	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357451	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs357454	0.90[ASN][1000 genomes]
rs357456	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357457	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367783	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs370275	0.89[ASN][1000 genomes]
rs373613	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs375018	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs380650	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs382122	0.94[ASN][1000 genomes]
rs385127	0.93[ASN][1000 genomes]
rs396918	0.89[ASN][1000 genomes]
rs397203	0.90[ASN][1000 genomes]
rs398970	0.92[ASN][1000 genomes]
rs399486	0.92[ASN][1000 genomes]
rs402228	0.91[ASN][1000 genomes]
rs402358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402486	0.93[ASN][1000 genomes]
rs407687	0.89[ASN][1000 genomes]
rs409813	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424605	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs427954	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs428488	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429103	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431358	0.91[ASN][1000 genomes]
rs432187	0.91[ASN][1000 genomes]
rs446384	0.93[ASN][1000 genomes]
rs447273	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs449239	0.91[ASN][1000 genomes]
rs60969	0.91[ASN][1000 genomes]
rs689683	0.94[ASN][1000 genomes]
rs690193	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:137998000-138000200	Enhancers	K562	blood
3	chr7:137998000-138000400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:137998200-137999800	Enhancers	Stomach Mucosa	stomach
5	chr7:137998600-138001600	Enhancers	HepG2	liver
6	chr7:137998600-138002400	Enhancers	Fetal Intestine Large	intestine
7	chr7:137999200-138000400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:137999200-138001000	Weak transcription	Liver	Liver
9	chr7:137999400-138000400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:137999400-138000400	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:137999400-138000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:137999600-138000200	Enhancers	Fetal Intestine Small	intestine

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