Variant report

Variant	rs7219568
Chromosome Location	chr17:17529606-17529607
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:
2	chr17:17494324..17496694-chr17:17529584..17532254,2	MCF-7	breast:

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

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11078396	0.85[GIH][hapmap]
rs11078397	0.85[GIH][hapmap]
rs11651378	1.00[CEU][hapmap]
rs11651957	0.93[EUR][1000 genomes]
rs11653424	0.85[GIH][hapmap]
rs11653696	1.00[GIH][hapmap]
rs11656769	1.00[GIH][hapmap]
rs11658311	1.00[CEU][hapmap]
rs11658944	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs11659047	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13342397	1.00[JPT][hapmap]
rs28454257	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28583584	0.83[EUR][1000 genomes]
rs28652618	0.83[EUR][1000 genomes]
rs28715719	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28884183	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4925112	0.87[TSI][hapmap]
rs56030759	0.81[EUR][1000 genomes]
rs56044345	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56177028	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56327101	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57638011	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62066215	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62066216	0.85[EUR][1000 genomes]
rs7210978	1.00[CEU][hapmap]
rs7214988	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7215055	1.00[CEU][hapmap]
rs7217764	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7222358	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs7222759	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7224725	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs73978990	0.95[EUR][1000 genomes]
rs8064558	1.00[CEU][hapmap]
rs8070432	1.00[CEU][hapmap]
rs8071007	0.95[EUR][1000 genomes]
rs8074981	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8076601	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077671	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078513	1.00[CEU][hapmap]
rs897456	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs9889584	1.00[CEU][hapmap]
rs9896285	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897362	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs9905032	1.00[CEU][hapmap]
rs9905191	1.00[CEU][hapmap]
rs9910075	0.85[GIH][hapmap]
rs9910151	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9910747	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs9911823	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912678	0.83[EUR][1000 genomes]
rs9914118	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944423	1.00[CEU][hapmap];0.83[EUR][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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17525400-17531800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:17526600-17532000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:17527800-17530600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
5	chr17:17529200-17530200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:17529400-17529800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17529400-17529800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:17529400-17530000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:17529400-17530000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr17:17529400-17530000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr17:17529400-17530200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17529400-17530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17529400-17530200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr17:17529400-17530200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr17:17529400-17530200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr17:17529400-17530200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr17:17529400-17530200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr17:17529400-17530400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:17529400-17530600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr17:17529400-17530600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr17:17529400-17530600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:17529400-17530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:17529400-17530800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:17529600-17529800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:17529600-17530000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr17:17529600-17530000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr17:17529600-17530200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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