Variant report

Variant	rs12186662
Chromosome Location	chr5:90356197-90356198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90343505..90346725-chr5:90355686..90358630,4	MCF-7	breast:
2	chr5:90354990..90356669-chr5:90674682..90677283,2	K562	blood:
3	chr5:90354607..90356691-chr5:90608614..90611398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271762	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000248323	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10942624	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13179479	0.85[ASN][1000 genomes]
rs13180409	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1819073	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1819074	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1828177	0.89[ASN][1000 genomes]
rs1828178	0.89[ASN][1000 genomes]
rs1848486	0.84[ASN][1000 genomes]
rs1848487	0.84[ASN][1000 genomes]
rs1852734	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2048217	0.89[ASN][1000 genomes]
rs2367186	0.88[ASN][1000 genomes]
rs2367274	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2463775	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2662278	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2662279	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2662281	0.84[ASN][1000 genomes]
rs2662282	0.85[ASN][1000 genomes]
rs2662283	0.84[ASN][1000 genomes]
rs2662284	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2697543	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2697544	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2697546	0.85[ASN][1000 genomes]
rs28875340	0.80[ASN][1000 genomes]
rs4254936	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4454077	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6452930	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6452934	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6452935	0.82[AMR][1000 genomes]
rs6882081	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs689544	0.84[ASN][1000 genomes]
rs7706034	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7719311	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7723511	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733230	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs937920	0.84[ASN][1000 genomes]
rs998788	0.83[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90341200-90376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:90344800-90368000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:90349600-90358400	Weak transcription	Fetal Kidney	kidney
4	chr5:90352400-90367000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:90354200-90359600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:90354600-90358200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:90354600-90359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:90354800-90368200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:90355200-90357200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:90355200-90358400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:90355400-90356400	Weak transcription	A549	lung
12	chr5:90355400-90357200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:90355400-90357400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:90355400-90357600	Weak transcription	Stomach Mucosa	stomach
15	chr5:90355400-90357600	Enhancers	GM12878-XiMat	blood
16	chr5:90355600-90357400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:90355600-90357800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:90356000-90356200	ZNF genes & repeats	Lung	lung

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