Variant report

Variant	rs7793747
Chromosome Location	chr7:12922814-12922815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12917507..12920028-chr7:12920746..12923468,3	K562	blood:
2	chr7:12921059..12923794-chr7:12925432..12927147,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230511	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10240689	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10249068	0.83[ASN][1000 genomes]
rs10254295	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10259240	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10259524	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12669053	0.82[EUR][1000 genomes]
rs1476815	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17166415	0.83[ASN][1000 genomes]
rs17166416	0.82[ASN][1000 genomes]
rs17619124	0.80[ASN][1000 genomes]
rs17619626	0.81[EUR][1000 genomes]
rs17681457	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1978246	1.00[CEU][hapmap]
rs2191266	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2356698	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357046	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28873158	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4288268	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4480006	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4721148	0.96[CEU][hapmap];0.91[GIH][hapmap]
rs55991971	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56082010	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62448164	0.81[EUR][1000 genomes]
rs6460980	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66817397	0.83[EUR][1000 genomes]
rs6942839	0.82[ASN][1000 genomes]
rs6947361	0.81[EUR][1000 genomes]
rs6948576	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6959850	0.92[EUR][1000 genomes]
rs6971599	0.82[EUR][1000 genomes]
rs6978013	1.00[CEU][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs758676	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7783477	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787728	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7791902	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7795573	1.00[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs7808814	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2763624	chr7:12917029-12951820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12922200-12924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:12922200-12924600	Weak transcription	Aorta	Aorta
3	chr7:12922200-12928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:12922200-12934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12922400-12923600	Weak transcription	A549	lung
6	chr7:12922400-12924400	Weak transcription	NHEK	skin

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