Variant report

Variant	rs17661929
Chromosome Location	chr7:48420261-48420262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11973519	0.81[CEU][hapmap]
rs11983883	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.95[EUR][1000 genomes]
rs1368653	0.81[CEU][hapmap]
rs1433517	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1433518	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1433519	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1526093	0.81[CEU][hapmap]
rs17132249	0.82[YRI][hapmap]
rs17132278	0.81[CEU][hapmap]
rs17132286	0.86[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17132289	0.89[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17132295	0.88[ASN][1000 genomes]
rs17661752	1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs17661898	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17712791	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813699	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1880739	0.81[CEU][hapmap]
rs2117089	0.82[YRI][hapmap]
rs2117090	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34996049	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145714	0.81[CEU][hapmap]
rs4437599	1.00[CEU][hapmap];0.87[JPT][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55869793	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61532297	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6583405	0.81[CEU][hapmap]
rs67033930	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946995	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6955132	0.81[CEU][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6966454	0.81[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs6974064	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs73097201	0.83[EUR][1000 genomes]
rs73099309	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73099311	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73099316	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73099324	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73099338	0.85[AFR][1000 genomes]
rs73099345	0.85[AFR][1000 genomes]
rs73099349	0.82[AFR][1000 genomes]
rs7780112	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7780299	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7784325	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs7795985	0.90[CEU][hapmap]
rs7803797	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7806347	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv5733	chr7:48387046-48434029	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17661929	COBL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48411000-48427200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:48411800-48420400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:48413200-48432600	Weak transcription	Spleen	Spleen
4	chr7:48414400-48423600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:48418400-48422400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:48420000-48424800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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