Variant report

Variant	rs7549721
Chromosome Location	chr1:192771684-192771685
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	chr1:192771126..192774213-chr1:192777407..192780045,3	K562	blood:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10737617	0.84[ASN][1000 genomes]
rs10737618	0.93[ASN][1000 genomes]
rs10754031	0.93[ASN][1000 genomes]
rs10801151	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801152	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10801153	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10801154	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10801156	0.94[EUR][1000 genomes]
rs10801157	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10801158	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10921264	0.81[ASN][1000 genomes]
rs10921265	0.93[ASN][1000 genomes]
rs10921266	0.84[AFR][1000 genomes]
rs10921267	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10921268	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586572	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565835	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418718	0.97[EUR][1000 genomes]
rs16834851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1819741	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1933694	0.84[ASN][1000 genomes]
rs2746071	0.97[EUR][1000 genomes]
rs2746072	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2746073	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3856223	0.90[ASN][1000 genomes]
rs4128057	0.84[ASN][1000 genomes]
rs6428136	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669632	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670129	0.84[ASN][1000 genomes]
rs6670801	0.85[ASN][1000 genomes]
rs6670806	0.85[ASN][1000 genomes]
rs6684156	0.97[EUR][1000 genomes]
rs6703040	0.88[AFR][1000 genomes]
rs7525778	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7534336	0.84[AFR][1000 genomes]
rs7546861	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192766200-192777200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192769800-192771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:192770000-192771800	Enhancers	Fetal Lung	lung
4	chr1:192770200-192775600	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:192770200-192776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:192770400-192774600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:192771000-192775200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:192771000-192776000	Weak transcription	NHLF	lung
9	chr1:192771000-192776200	Weak transcription	NHDF-Ad	bronchial
10	chr1:192771000-192776400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:192771200-192775400	Weak transcription	Osteobl	bone

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