Variant report

Variant	rs9989485
Chromosome Location	chr17:45058636-45058637
allele	A/G
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	TEAD4	chr17:45058303-45058645	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45020840..45022921-chr17:45057973..45060223,2	K562	blood:

Variant related genes	Relation type
RPRML	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11651232	0.92[ASN][1000 genomes]
rs11651386	0.87[ASN][1000 genomes]
rs11656290	0.90[ASN][1000 genomes]
rs11656787	0.94[ASN][1000 genomes]
rs11657300	0.87[ASN][1000 genomes]
rs12449354	0.91[ASN][1000 genomes]
rs12603324	0.89[ASN][1000 genomes]
rs16941434	0.93[ASN][1000 genomes]
rs2316327	0.92[ASN][1000 genomes]
rs2316757	0.94[ASN][1000 genomes]
rs2316759	0.93[ASN][1000 genomes]
rs2317995	0.94[ASN][1000 genomes]
rs2317996	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2873608	0.94[ASN][1000 genomes]
rs3851794	0.94[ASN][1000 genomes]
rs3851797	0.94[ASN][1000 genomes]
rs3851800	0.94[ASN][1000 genomes]
rs3851802	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3863499	0.90[ASN][1000 genomes]
rs3892426	0.94[ASN][1000 genomes]
rs3892427	0.93[ASN][1000 genomes]
rs3892428	0.94[ASN][1000 genomes]
rs3892678	0.94[ASN][1000 genomes]
rs3901590	0.94[ASN][1000 genomes]
rs4274483	0.94[ASN][1000 genomes]
rs4305136	0.94[ASN][1000 genomes]
rs4468691	0.94[ASN][1000 genomes]
rs4569351	0.94[ASN][1000 genomes]
rs4968294	0.92[ASN][1000 genomes]
rs4968295	0.93[ASN][1000 genomes]
rs4968296	0.93[ASN][1000 genomes]
rs61173406	0.90[ASN][1000 genomes]
rs62075930	0.93[ASN][1000 genomes]
rs6504635	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504637	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6504638	0.94[ASN][1000 genomes]
rs6504640	0.94[ASN][1000 genomes]
rs6504647	0.94[ASN][1000 genomes]
rs7210126	0.94[ASN][1000 genomes]
rs7214665	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7219480	0.94[ASN][1000 genomes]
rs7221913	0.94[ASN][1000 genomes]
rs8064764	0.94[ASN][1000 genomes]
rs8064863	0.92[ASN][1000 genomes]
rs8065072	0.93[ASN][1000 genomes]
rs8065103	0.93[ASN][1000 genomes]
rs8067295	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs8068375	0.93[ASN][1000 genomes]
rs8069682	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8071977	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073175	0.93[ASN][1000 genomes]
rs8073261	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8074704	0.94[ASN][1000 genomes]
rs8074861	0.94[ASN][1000 genomes]
rs8075457	0.92[ASN][1000 genomes]
rs8078196	0.94[ASN][1000 genomes]
rs8078665	0.94[ASN][1000 genomes]
rs8081157	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891441	0.93[ASN][1000 genomes]
rs9891658	0.89[ASN][1000 genomes]
rs9910512	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9989485	RPRML	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45056800-45069000	Weak transcription	Gastric	stomach
2	chr17:45057000-45059600	Weak transcription	HepG2	liver
3	chr17:45057000-45061200	Weak transcription	Pancreas	Pancrea
4	chr17:45057000-45065600	Weak transcription	Brain Substantia Nigra	brain
5	chr17:45057000-45078400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:45057200-45086800	Weak transcription	Right Atrium	heart
7	chr17:45057200-45100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:45057800-45082400	Weak transcription	Brain Angular Gyrus	brain
9	chr17:45058000-45058800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr17:45058200-45060400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:45058400-45058800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr17:45058400-45058800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr17:45058400-45058800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:45058400-45058800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45058400-45058800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr17:45058400-45058800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr17:45058400-45058800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:45058400-45059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:45058400-45059000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr17:45058400-45059600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:45058600-45058800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr17:45058600-45058800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr17:45058600-45059000	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:45058600-45060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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