Variant report

Variant	rs6874357
Chromosome Location	chr5:127175431-127175432
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	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:
2	chr5:127093555..127095381-chr5:127175132..127176761,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1579284	0.88[EUR][1000 genomes]
rs2110358	0.88[EUR][1000 genomes]
rs2110359	0.88[EUR][1000 genomes]
rs6595795	0.95[EUR][1000 genomes]
rs6864687	1.00[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs9285907	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6874357	SLC12A2	cis	cerebellum	SCAN
rs6874357	CTXN3	cis	parietal	SCAN
rs6874357	CTXN3	cis	cerebellum	SCAN
rs6874357	SLC27A6	cis	parietal	SCAN

Chromatin state (count:21 , 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	chr5:127174200-127175600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:127174200-127176000	Enhancers	Stomach Mucosa	stomach
5	chr5:127174200-127177000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:127174400-127177600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:127174600-127175600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:127174600-127176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:127174800-127176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:127174800-127179800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:127174800-127180000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:127174800-127180000	Weak transcription	HSMM	muscle
13	chr5:127174800-127180000	Weak transcription	HSMMtube	muscle
14	chr5:127175000-127176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:127175000-127179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:127175000-127180000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:127175000-127180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:127175000-127180200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:127175400-127176200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:127175400-127176200	Enhancers	GM12878-XiMat	blood
21	chr5:127175400-127177000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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