Variant report

Variant	rs245327
Chromosome Location	chr5:127175134-127175135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127172554..127175217-chr5:127418904..127421266,2	K562	blood:
2	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:
3	chr5:127093555..127095381-chr5:127175132..127176761,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs151849	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151879	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs151880	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151881	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151882	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151883	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151884	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151885	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs181746	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245177	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245178	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245179	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245180	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245181	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245182	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs245183	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs245186	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245187	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245191	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245192	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245193	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245194	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245195	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245197	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245198	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245199	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245200	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245201	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245310	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245313	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245314	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6595795	0.84[ASN][1000 genomes]
rs9285907	0.82[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3421549	chr5:127170353-127175251	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:127173800-127176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:127174200-127175200	Enhancers	HUVEC	blood vessel
4	chr5:127174200-127175600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:127174200-127176000	Enhancers	Stomach Mucosa	stomach
6	chr5:127174200-127177000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:127174400-127177600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:127174600-127175400	Weak transcription	GM12878-XiMat	blood
9	chr5:127174600-127175600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:127174600-127176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:127174800-127176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:127174800-127179800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:127174800-127180000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:127174800-127180000	Weak transcription	HSMM	muscle
15	chr5:127174800-127180000	Weak transcription	HSMMtube	muscle
16	chr5:127175000-127175400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:127175000-127175400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:127175000-127176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:127175000-127179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:127175000-127180000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:127175000-127180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:127175000-127180200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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