Variant report

Variant	rs2527295
Chromosome Location	chr7:70826851-70826852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11972878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11973680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527290	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527292	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527293	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527296	1.00[YRI][hapmap]
rs2527311	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527315	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707427	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707430	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707434	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707435	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73360130	1.00[AMR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70814800-70828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70814800-70829400	Weak transcription	Ovary	ovary
3	chr7:70818800-70828800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:70819000-70828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70823000-70828600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:70825600-70829000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70826000-70827200	Enhancers	Fetal Heart	heart
8	chr7:70826000-70827600	Weak transcription	Pancreas	Pancrea
9	chr7:70826600-70827000	Enhancers	Fetal Brain Male	brain
10	chr7:70826600-70827400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:70826800-70827000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:70826800-70827200	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:70826800-70827600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:70826800-70828800	Weak transcription	iPS-20b 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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