Variant report

Variant	rs2697542
Chromosome Location	chr5:90348787-90348788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90348024..90350979-chr5:90676084..90679046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10037172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1818349	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830364	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367279	0.81[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2367284	0.90[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2697548	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973446	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4244206	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7449334	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9293558	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937920	0.88[LWK][hapmap];0.82[YRI][hapmap];0.81[AFR][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90324600-90350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:90341200-90376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:90344400-90353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90344600-90348800	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:90344800-90368000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:90346000-90348800	Weak transcription	HUVEC	blood vessel
7	chr5:90346200-90348800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:90347000-90348800	Weak transcription	A549	lung
9	chr5:90347800-90349400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:90348200-90350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:90348200-90351000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:90348400-90349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:90348400-90349400	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:90348400-90350000	Enhancers	Adipose Nuclei	Adipose
15	chr5:90348400-90350000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:90348400-90350400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:90348400-90351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:90348600-90349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:90348600-90349800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:90348600-90350000	Enhancers	Hela-S3	cervix

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