Variant report

Variant	rs6954107
Chromosome Location	chr7:53663485-53663486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11972357	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974813	1.00[EUR][1000 genomes]
rs11975558	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12111713	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17152957	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60542993	1.00[EUR][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	nsv948546	chr7:53538304-54337148	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1032785	chr7:53660651-53758673	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53655600-53671400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:53661600-53663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:53662800-53664600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:53663000-53664200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:53663400-53663800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:53663400-53663800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:53663400-53664000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:53663400-53664200	Enhancers	Colon Smooth Muscle	Colon
9	chr7:53663400-53664400	Enhancers	NHEK	skin
10	chr7:53663400-53664600	Enhancers	HMEC	breast
11	chr7:53663400-53666800	Enhancers	Rectal Smooth Muscle	rectum

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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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