Variant report

Variant	rs6867167
Chromosome Location	chr5:91977934-91977935
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:91975866-91978160	SK-N-SH	brain:	n/a	n/a
2	EP300	chr5:91975869-91978166	SK-N-SH	brain:	n/a	chr5:91977902-91977910 chr5:91976986-91976995 chr5:91976252-91976260 chr5:91975978-91975988 chr5:91977272-91977282 chr5:91977887-91977901

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:91971734..91973467-chr5:91976033..91978682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249776	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10038396	0.82[ASW][hapmap];0.85[CEU][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10068351	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1393214	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1501922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532694	0.81[ASN][1000 genomes]
rs1910057	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869124	0.81[AMR][1000 genomes]
rs6556875	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6889914	0.92[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701831	0.80[EUR][1000 genomes]
rs7716504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7731530	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7735987	0.82[ASW][hapmap];0.85[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs972728	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv882379	chr5:91938705-92064532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6867167	RFESD	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91975800-91978600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:91976200-91978200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:91976200-91978600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:91976400-91978200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:91976600-91978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:91976600-91978200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:91976600-91978200	Enhancers	Colon Smooth Muscle	Colon
8	chr5:91976800-91978200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:91977000-91978000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:91977400-91978400	Enhancers	Fetal Intestine Small	intestine
11	chr5:91977400-91979000	Enhancers	Fetal Intestine Large	intestine
12	chr5:91977400-91980200	Weak transcription	Fetal Heart	heart
13	chr5:91977600-91978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:91977600-91978000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:91977600-91978000	Enhancers	Liver	Liver
16	chr5:91977600-91978000	Enhancers	Brain Hippocampus Middle	brain
17	chr5:91977600-91978000	Enhancers	Fetal Kidney	kidney
18	chr5:91977600-91978000	Enhancers	Fetal Lung	lung
19	chr5:91977600-91978000	Enhancers	HepG2	liver
20	chr5:91977600-91978000	Enhancers	HUVEC	blood vessel
21	chr5:91977600-91978200	Enhancers	Hela-S3	cervix
22	chr5:91977600-91978600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:91977600-91979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:91977600-91980200	Weak transcription	Adipose Nuclei	Adipose
25	chr5:91977600-91981000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:91977800-91978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:91977800-91978000	Flanking Active TSS	A549	lung

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