Variant report

Variant	rs61254430
Chromosome Location	chr7:83299373-83299374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs215030	0.93[EUR][1000 genomes]
rs302101	0.90[EUR][1000 genomes]
rs3801659	0.85[ASN][1000 genomes]
rs489815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs540157	0.93[EUR][1000 genomes]
rs571356	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs613051	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs643044	0.82[AFR][1000 genomes];0.87[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	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753501	chr7:83250118-83336854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017237	chr7:83262951-83423389	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83296200-83299600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:83298600-83302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:83298600-83302000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:83298800-83302000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:83298800-83302200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:83299000-83300600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:83299000-83302000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:83299000-83304400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:83299200-83299800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:83299200-83300600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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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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