Variant report

Variant	rs7697724
Chromosome Location	chr4:127638432-127638433
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127587813..127589490-chr4:127637912..127640356,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11098889	0.96[ASN][1000 genomes]
rs1167192	0.95[ASN][1000 genomes]
rs12650738	0.94[ASN][1000 genomes]
rs13145010	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13151312	0.82[ASN][1000 genomes]
rs1393992	0.81[EUR][1000 genomes]
rs1491136	0.94[ASN][1000 genomes]
rs1491137	0.94[ASN][1000 genomes]
rs1491138	0.84[ASN][1000 genomes]
rs1503620	0.94[ASN][1000 genomes]
rs17011450	0.96[ASN][1000 genomes]
rs17011452	0.96[ASN][1000 genomes]
rs17011495	0.93[ASN][1000 genomes]
rs17202524	0.84[EUR][1000 genomes]
rs17262874	0.83[EUR][1000 genomes]
rs192855	0.81[EUR][1000 genomes]
rs2008243	0.94[ASN][1000 genomes]
rs2174183	0.82[ASN][1000 genomes]
rs220087	0.84[EUR][1000 genomes]
rs2221359	0.80[EUR][1000 genomes]
rs2637572	0.82[EUR][1000 genomes]
rs2654715	0.91[ASN][1000 genomes]
rs2969612	0.84[EUR][1000 genomes]
rs313068	1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs313108	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313110	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313111	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313112	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313113	0.84[EUR][1000 genomes]
rs313114	0.84[EUR][1000 genomes]
rs313116	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313124	0.81[CHD][hapmap]
rs4146615	0.80[ASN][1000 genomes]
rs433919	0.83[EUR][1000 genomes]
rs57259679	0.87[ASN][1000 genomes]
rs57840308	0.80[ASN][1000 genomes]
rs58743449	0.80[ASN][1000 genomes]
rs61031744	0.80[ASN][1000 genomes]
rs61613462	0.80[ASN][1000 genomes]
rs6817065	0.94[ASN][1000 genomes]
rs73846080	0.99[ASN][1000 genomes]
rs73846081	0.99[ASN][1000 genomes]
rs73846082	0.99[ASN][1000 genomes]
rs73846083	0.99[ASN][1000 genomes]
rs7660412	0.87[ASN][1000 genomes]
rs7683495	0.87[ASN][1000 genomes]
rs951783	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7697724	INTU	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127637200-127638800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:127637200-127639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:127637200-127647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:127637800-127638600	Genic enhancers	K562	blood
5	chr4:127638200-127640200	Enhancers	Fetal Lung	lung

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