Variant report

Variant	rs2547914
Chromosome Location	chr5:100108606-100108607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2544921	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2548260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2561521	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2561522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2725129	0.99[AFR][1000 genomes]
rs7723678	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	esv2762532	chr5:100041758-100136552	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100106600-100109000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:100107000-100108800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100107400-100109200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:100107600-100109200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:100107600-100109200	Enhancers	Brain Germinal Matrix	brain
6	chr5:100107800-100108800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:100107800-100109200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100107800-100109200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:100107800-100109200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:100107800-100109200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:100107800-100109200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:100108000-100109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:100108000-100109200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:100108000-100109200	Enhancers	Fetal Kidney	kidney
15	chr5:100108200-100109000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:100108200-100109200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:100108200-100109200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:100108600-100111400	Weak transcription	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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