Variant report

Variant	rs17109624
Chromosome Location	chr14:40152398-40152399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12586655	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12586931	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17109490	1.00[EUR][1000 genomes]
rs17109562	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17109569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17109697	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7142838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73283150	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs910794	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832775	chr14:40038735-40193559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1051931	chr14:40130325-40164269	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1046932	chr14:40132136-40268085	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1047288	chr14:40143177-40275545	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40143400-40152400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:40143400-40152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:40150800-40153000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:40150800-40153400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:40150800-40153600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:40150800-40153800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:40151000-40152400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:40151000-40152800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:40151000-40153400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:40151000-40154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:40151200-40152600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:40151200-40152600	Weak transcription	GM12878-XiMat	blood
13	chr14:40151200-40153600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:40151200-40154000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:40151400-40152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:40151800-40153000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:40152000-40152800	Enhancers	ES-UCSF4 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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