Variant report

Variant	rs574165
Chromosome Location	chr6:161956675-161956676
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	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs476161	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs480470	0.81[JPT][hapmap]
rs480557	0.89[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs482420	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs483366	0.86[CHD][hapmap]
rs492267	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs493806	0.83[CHB][hapmap]
rs495991	0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs496759	0.81[JPT][hapmap]
rs503890	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs505555	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs505693	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs506428	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs507499	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs510968	0.83[CHB][hapmap]
rs513141	0.81[JPT][hapmap]
rs515801	0.81[JPT][hapmap]
rs517010	0.82[ASN][1000 genomes]
rs518666	0.81[JPT][hapmap]
rs520732	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs521641	0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs523179	0.82[CHD][hapmap]
rs526207	0.81[JPT][hapmap]
rs528061	0.85[JPT][hapmap]
rs531449	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs536667	0.82[CHB][hapmap]
rs541480	0.81[JPT][hapmap]
rs543888	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs545310	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs548060	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs551941	0.81[JPT][hapmap]
rs6900584	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6905156	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs6927018	0.81[JPT][hapmap]
rs693282	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv481861	chr6:161802883-162160197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv481981	chr6:161829077-162215745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1033603	chr6:161844266-162001436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv481750	chr6:161850976-161996586	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv481932	chr6:161862158-162097499	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv886822	chr6:161891388-161958898	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv886823	chr6:161891388-161971398	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv886824	chr6:161891388-161982988	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv886825	chr6:161891388-162184932	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1016737	chr6:161927768-161974956	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1027655	chr6:161951065-162170596	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv538497	chr6:161951065-162170596	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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
rs574165	IGF2R	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161956400-161956800	Weak transcription	Left Ventricle	heart
2	chr6:161956600-161957800	Enhancers	Psoas Muscle	Psoas
3	chr6:161956600-161958200	Enhancers	Skeletal Muscle Male	skeletal muscle

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