Variant report

Variant	rs2440798
Chromosome Location	chr7:137811756-137811757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1844398	0.82[ASN][1000 genomes]
rs2440800	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2450838	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465072	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2465085	0.89[AMR][1000 genomes]
rs2465911	0.90[ASN][1000 genomes]
rs2465914	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2465915	0.83[AMR][1000 genomes]
rs2590000	0.85[ASN][1000 genomes]
rs2633359	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2709984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709986	0.88[AMR][1000 genomes]
rs35854051	0.81[EUR][1000 genomes];0.90[ASN][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	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	nsv608471	chr7:137808839-137847598	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137809400-137812600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:137810200-137813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:137810400-137813200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:137810800-137811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:137811000-137812400	Weak transcription	HMEC	breast
6	chr7:137811000-137814400	Weak transcription	HepG2	liver
7	chr7:137811200-137812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:137811600-137812000	Enhancers	Hela-S3	cervix

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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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