Variant report

Variant	rs9911672
Chromosome Location	chr17:17528670-17528671
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	chr17:17398308..17400093-chr17:17528024..17530338,2	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11650499	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11869600	0.81[ASN][1000 genomes]
rs11871738	0.97[ASN][1000 genomes]
rs12937108	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12937187	0.86[ASN][1000 genomes]
rs12939297	0.97[ASN][1000 genomes]
rs12939598	0.86[ASN][1000 genomes]
rs12941217	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12942708	0.97[ASN][1000 genomes]
rs12943416	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12945496	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12946063	0.86[ASN][1000 genomes]
rs12946845	0.86[ASN][1000 genomes]
rs12947517	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12949039	0.86[ASN][1000 genomes]
rs12949336	0.86[ASN][1000 genomes]
rs12950093	0.86[ASN][1000 genomes]
rs12951181	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12951347	0.91[ASN][1000 genomes]
rs12952281	0.86[ASN][1000 genomes]
rs12952629	0.86[ASN][1000 genomes]
rs34664666	0.86[ASN][1000 genomes]
rs35372447	0.94[ASN][1000 genomes]
rs35660942	0.97[ASN][1000 genomes]
rs35851484	0.86[ASN][1000 genomes]
rs58251514	0.80[ASN][1000 genomes]
rs62066210	0.94[ASN][1000 genomes]

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	esv20304	chr17:17525592-17533785	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9911672	TOM1L2	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17517200-17529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17525400-17531800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:17525600-17529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:17526600-17532000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:17527000-17529400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr17:17527200-17529400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17527400-17529400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:17527400-17529400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17527400-17529400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:17527400-17529600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:17527400-17529600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:17527800-17530600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:17528000-17528800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr17:17528000-17528800	Enhancers	Adipose Nuclei	Adipose
15	chr17:17528000-17529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:17528200-17529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:17528400-17528800	Enhancers	Spleen	Spleen
18	chr17:17528400-17529200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:17528600-17529400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:17528600-17529400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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