Variant report

Variant	rs11978534
Chromosome Location	chr7:70943452-70943453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10225351	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236302	1.00[ASN][1000 genomes]
rs10236816	1.00[ASN][1000 genomes]
rs11971260	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11974441	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977703	1.00[ASN][1000 genomes]
rs11978444	1.00[ASN][1000 genomes]
rs11979250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960883	0.91[AMR][1000 genomes]
rs6970463	1.00[ASN][1000 genomes]
rs6978227	0.91[AMR][1000 genomes]
rs73367531	1.00[ASN][1000 genomes]
rs73700934	0.91[AMR][1000 genomes]
rs73700935	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73700936	0.91[AMR][1000 genomes]
rs7802334	1.00[ASN][1000 genomes]
rs7805349	1.00[ASN][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70938200-70944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:70940200-70944800	Weak transcription	Fetal Lung	lung
3	chr7:70940200-70945400	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:70940200-70951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:70940600-70944400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:70940600-70946000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:70941400-70943600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70941400-70943600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:70941400-70944200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70941400-70945600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:70941400-70953200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:70941800-70943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:70942400-70943600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:70942400-70943800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:70943000-70944000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:70943200-70944600	Enhancers	HUES6 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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