Variant report

Variant	rs7224677
Chromosome Location	chr17:15208641-15208642
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	chr17:15201977..15203570-chr17:15206854..15208691,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1014027	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs11078289	0.83[ASN][1000 genomes]
rs12600385	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs1380182	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1380184	0.95[CEU][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]
rs1903112	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168999	0.88[ASN][1000 genomes]
rs2286516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7213020	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7213079	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223727	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs725341	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs8072399	0.86[ASN][1000 genomes]
rs973761	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7224677	EPN2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15202000-15208800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:15202000-15209400	Weak transcription	Osteobl	bone
3	chr17:15202400-15209400	Weak transcription	NHDF-Ad	bronchial
4	chr17:15205400-15213400	Enhancers	Fetal Stomach	stomach
5	chr17:15205600-15210000	Weak transcription	HSMMtube	muscle
6	chr17:15206800-15209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:15206800-15209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:15207200-15209000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:15207400-15209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:15207400-15209800	Enhancers	Fetal Lung	lung
11	chr17:15207400-15211800	Weak transcription	Brain Germinal Matrix	brain
12	chr17:15207600-15210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:15207600-15210400	Weak transcription	Fetal Brain Male	brain
14	chr17:15207800-15210000	Enhancers	Colon Smooth Muscle	Colon
15	chr17:15208000-15209200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:15208200-15209000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:15208200-15209000	Enhancers	Stomach Smooth Muscle	stomach
18	chr17:15208200-15210800	Enhancers	Fetal Muscle Leg	muscle
19	chr17:15208200-15211600	Enhancers	Rectal Smooth Muscle	rectum
20	chr17:15208400-15209000	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:15208400-15209200	Enhancers	Ovary	ovary
22	chr17:15208400-15209400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:15208400-15209800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:15208600-15210000	Weak transcription	Placenta	Placenta

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