Variant report

Variant	rs17166673
Chromosome Location	chr7:13094739-13094740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13091224..13092839-chr7:13093299..13095856,2	K562	blood:
2	chr7:13093779..13096148-chr7:13099334..13101239,2	K562	blood:
3	chr7:12726504..12729722-chr7:13092003..13095862,3	K562	blood:
4	chr7:13094404..13096720-chr7:13097474..13099748,2	K562	blood:
5	chr7:13088931..13090663-chr7:13093892..13095543,2	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10429149	0.82[AMR][1000 genomes]
rs10488243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950428	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10950431	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10950432	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10950433	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10950434	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11975327	0.81[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11983822	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056050	0.90[AMR][1000 genomes]
rs12056168	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12056220	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12112648	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12113090	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs12530565	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12530643	0.88[ASN][1000 genomes]
rs12530651	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12531362	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs12531363	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs12532653	0.89[ASN][1000 genomes]
rs12533128	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12534513	0.88[AMR][1000 genomes]
rs12534537	0.83[ASN][1000 genomes]
rs12534546	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12536140	0.87[AMR][1000 genomes]
rs12536193	0.88[AMR][1000 genomes]
rs12537378	0.85[ASN][1000 genomes]
rs12537712	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539699	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12671480	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12672647	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16877655	0.82[AMR][1000 genomes]
rs17166605	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17166608	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17166610	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17166612	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17166614	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17166626	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17166643	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17166651	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17166653	0.82[JPT][hapmap]
rs17166655	0.83[JPT][hapmap]
rs17166658	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs17166671	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17166674	0.90[AMR][1000 genomes]
rs17166683	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17166689	0.87[AMR][1000 genomes]
rs17166711	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17166712	0.82[AMR][1000 genomes]
rs17166756	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs1861237	0.82[ASN][1000 genomes]
rs1981639	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs2005878	0.87[AMR][1000 genomes]
rs2006291	0.87[AMR][1000 genomes]
rs2110650	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2160193	0.90[AMR][1000 genomes]
rs2191043	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs2215950	0.84[EUR][1000 genomes]
rs28639785	0.88[AMR][1000 genomes]
rs34125302	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34404228	0.84[AMR][1000 genomes]
rs34932308	0.83[AMR][1000 genomes]
rs35023832	0.84[AMR][1000 genomes]
rs35432593	0.84[AMR][1000 genomes]
rs4236278	0.96[JPT][hapmap]
rs4636097	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4719347	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4721177	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55957561	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57459966	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58757383	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59675898	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60020188	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60345281	0.90[ASN][1000 genomes]
rs60705466	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61232028	0.90[ASN][1000 genomes]
rs61639094	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6460997	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6460999	0.82[AMR][1000 genomes]
rs6461000	0.82[AMR][1000 genomes]
rs6461007	1.00[CEU][hapmap];0.96[JPT][hapmap]
rs6949649	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6950122	0.84[AMR][1000 genomes]
rs6950438	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6950752	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6956549	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6964875	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs6969380	0.83[AMR][1000 genomes]
rs6969769	0.88[AMR][1000 genomes]
rs6974627	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs6977552	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73255876	0.81[AMR][1000 genomes]
rs73259988	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73259991	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73261908	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73261911	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73261913	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73261923	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73261936	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73261950	0.88[EUR][1000 genomes]
rs73261954	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73261964	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73261983	0.86[AMR][1000 genomes]
rs736198	0.83[AMR][1000 genomes]
rs738052	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs763534	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7777911	0.86[ASN][1000 genomes]
rs7778632	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7778887	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7783710	0.82[AMR][1000 genomes]
rs7787776	0.83[AMR][1000 genomes]
rs7787998	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7788257	0.83[AMR][1000 genomes]
rs7788484	0.82[CEU][hapmap];0.96[JPT][hapmap]
rs7789174	0.84[AMR][1000 genomes]
rs7789528	0.87[AMR][1000 genomes]
rs7789970	0.82[CEU][hapmap];0.96[JPT][hapmap]
rs7790328	0.82[CEU][hapmap];0.96[JPT][hapmap]
rs7790665	0.82[CEU][hapmap];0.96[JPT][hapmap]
rs7790770	0.95[JPT][hapmap]
rs7793289	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7793405	0.90[AMR][1000 genomes]
rs7793573	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7797104	0.86[ASN][1000 genomes]
rs7799356	0.81[CEU][hapmap]
rs7802485	0.81[AMR][1000 genomes]
rs7802872	0.82[AMR][1000 genomes]
rs9639142	0.82[CEU][hapmap];0.96[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027572	chr7:13093204-13130069	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029105	chr7:13093939-13123408	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026055	chr7:13093939-13130069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1016921	chr7:13093939-13130645	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1026551	chr7:13093939-13130746	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13090200-13102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13091000-13097000	Weak transcription	K562	blood
3	chr7:13091400-13095800	Weak transcription	HUVEC	blood vessel
4	chr7:13091600-13097200	Weak transcription	A549	lung

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