Variant report

Variant	rs17641003
Chromosome Location	chr1:185293197-185293198
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	chr1:185291465..185294333-chr1:185294415..185297743,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157232	0.91[EUR][1000 genomes]
rs10174	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10752947	0.84[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs10798002	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10798003	0.89[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs10798004	0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs10798006	0.86[EUR][1000 genomes]
rs10911700	0.89[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs10911702	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911704	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911707	0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs10911708	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12026391	0.96[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041704	0.89[CEU][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12044943	0.92[EUR][1000 genomes]
rs12135769	0.85[CEU][hapmap]
rs12136040	0.86[EUR][1000 genomes]
rs1336753	0.81[EUR][1000 genomes]
rs1889976	0.89[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs2152707	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2224027	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2281416	0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2378909	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2378910	0.89[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34611062	0.84[EUR][1000 genomes]
rs57977436	0.85[EUR][1000 genomes]
rs6656019	0.92[EUR][1000 genomes]
rs66845254	0.93[EUR][1000 genomes]
rs6685627	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6687774	0.94[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs726567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512337	0.91[EUR][1000 genomes]
rs7531487	0.86[EUR][1000 genomes]
rs7539575	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs7542721	0.86[EUR][1000 genomes]
rs7545878	0.92[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs883753	0.89[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs997283	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17641003	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185287600-185298200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:185287800-185298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:185288400-185294400	Weak transcription	Fetal Heart	heart
4	chr1:185291600-185294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:185291800-185295000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:185292800-185293800	Enhancers	HepG2	liver

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