Variant report

Variant	rs4925057
Chromosome Location	chr17:17545254-17545255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17259089..17260385-chr17:17544622..17546177,9	MCF-7	breast:
2	chr17:17258058..17258952-chr17:17544848..17545815,5	K562	blood:
3	chr17:17493061..17495997-chr17:17543496..17546695,6	MCF-7	breast:
4	chr17:17544828..17545772-chr17:17584066..17584898,4	MCF-7	breast:
5	chr17:17516670..17517342-chr17:17545219..17545737,2	K562	blood:
6	chr17:17399689..17401694-chr17:17543358..17545754,2	MCF-7	breast:
7	chr17:17400144..17400698-chr17:17545089..17545735,2	MCF-7	breast:
8	chr17:17258318..17258953-chr17:17544855..17545735,4	MCF-7	breast:
9	chr17:17259024..17260086-chr17:17544806..17545860,9	K562	blood:
10	chr17:17399759..17400695-chr17:17544845..17545554,2	K562	blood:
11	chr17:17258293..17258833-chr17:17545186..17545713,2	MCF-7	breast:
12	chr17:17472009..17472683-chr17:17544864..17545773,3	K562	blood:
13	chr17:17258945..17259870-chr17:17545084..17545743,2	MCF-7	breast:
14	chr17:17426329..17426903-chr17:17544918..17545575,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000108551	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4925048	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4925057	SNORD49A	cis	parietal	SCAN
rs4925057	MFAP4	cis	parietal	SCAN
rs4925057	TEKT3	cis	cerebellum	SCAN
rs4925057	PLD6	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17541000-17545400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:17541600-17545400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr17:17543800-17545400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr17:17544800-17545600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:17544800-17545600	Enhancers	Right Ventricle	heart
6	chr17:17545000-17545400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr17:17545000-17545400	Enhancers	Dnd41	blood
8	chr17:17545000-17545600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr17:17545000-17545600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:17545000-17545600	Enhancers	Adipose Nuclei	Adipose
11	chr17:17545000-17545600	Enhancers	Fetal Heart	heart
12	chr17:17545000-17545600	Enhancers	Fetal Stomach	stomach
13	chr17:17545000-17545600	Enhancers	Left Ventricle	heart
14	chr17:17545000-17545600	Enhancers	Hela-S3	cervix
15	chr17:17545000-17545800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr17:17545000-17546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:17545200-17545800	Enhancers	HepG2	liver
18	chr17:17545200-17547400	Weak transcription	Spleen	Spleen
19	chr17:17545200-17550000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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