Variant report

Variant	rs1184996
Chromosome Location	chr7:22001310-22001311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1174938	0.90[EUR][1000 genomes]
rs1174939	0.90[EUR][1000 genomes]
rs1174940	0.90[EUR][1000 genomes]
rs2107976	0.90[EUR][1000 genomes]
rs2108281	0.95[EUR][1000 genomes]
rs28787906	0.98[EUR][1000 genomes]
rs4722071	0.98[EUR][1000 genomes]
rs6461626	0.87[EUR][1000 genomes]
rs6942958	0.90[EUR][1000 genomes]
rs6953045	0.84[EUR][1000 genomes]
rs6974734	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv870325	chr7:21979039-22120493	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
3	nsv1029966	chr7:21999316-22028266	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21999400-22002800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:21999800-22002200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:22000000-22001600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:22000200-22002400	Weak transcription	A549	lung
5	chr7:22000400-22003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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