Variant report

Variant	rs7225691
Chromosome Location	chr17:53565225-53565226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:53559082..53561772-chr17:53563731..53566887,3	K562	blood:
2	chr17:53564070..53566342-chr17:53569754..53572589,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11656380	0.92[ASN][1000 genomes]
rs11870717	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150374	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12325730	0.93[ASN][1000 genomes]
rs12451745	0.90[EUR][1000 genomes]
rs12940911	0.95[ASN][1000 genomes]
rs12942292	0.94[ASN][1000 genomes]
rs12943574	0.95[ASN][1000 genomes]
rs12944990	0.92[EUR][1000 genomes]
rs12950992	0.99[ASN][1000 genomes]
rs17819194	0.99[ASN][1000 genomes]
rs17819212	0.99[ASN][1000 genomes]
rs35686442	0.90[EUR][1000 genomes]
rs4432304	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794592	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794935	0.99[ASN][1000 genomes]
rs7220600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9303370	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs9890254	0.90[EUR][1000 genomes]
rs9890288	0.89[EUR][1000 genomes]
rs9899752	0.92[EUR][1000 genomes]
rs9903218	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9908571	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9910434	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833490	chr17:53564973-53612482	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7225691	ANKFN1	cis	cerebellum	SCAN
rs7225691	NGFR	cis	cerebellum	SCAN
rs7225691	TOM1L1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53564800-53565400	Enhancers	Colon Smooth Muscle	Colon
2	chr17:53564800-53565600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr17:53564800-53565600	Enhancers	Fetal Stomach	stomach
4	chr17:53564800-53565600	Enhancers	Rectal Smooth Muscle	rectum
5	chr17:53564800-53566200	Enhancers	HepG2	liver
6	chr17:53565000-53565400	Enhancers	Fetal Intestine Large	intestine
7	chr17:53565000-53565400	Enhancers	Fetal Intestine Small	intestine
8	chr17:53565000-53565400	Enhancers	K562	blood
9	chr17:53565000-53565600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr17:53565000-53565600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr17:53565000-53565600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:53565000-53565600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:53565000-53565600	Enhancers	Fetal Lung	lung
14	chr17:53565000-53565600	Enhancers	Fetal Muscle Leg	muscle
15	chr17:53565000-53566000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:53565000-53566000	Enhancers	A549	lung
17	chr17:53565000-53566200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr17:53565000-53566400	Enhancers	Adipose Nuclei	Adipose
19	chr17:53565200-53565600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:53565200-53565600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr17:53565200-53565600	Enhancers	Placenta	Placenta
22	chr17:53565200-53565600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr17:53565200-53565800	Enhancers	Liver	Liver
24	chr17:53565200-53565800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:53565200-53565800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr17:53565200-53570200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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