Variant report

Variant	rs9402498
Chromosome Location	chr6:133593183-133593184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133593178-133593756	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
EYA4	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12190309	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12192839	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1415858	0.81[EUR][1000 genomes]
rs2180729	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3756869	0.81[EUR][1000 genomes]
rs3756871	0.81[EUR][1000 genomes]
rs3756872	0.81[EUR][1000 genomes]
rs3777785	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3777796	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777799	0.87[ASN][1000 genomes]
rs55947866	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56377439	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430275	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6569873	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6569874	0.91[ASN][1000 genomes]
rs6940510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7746298	0.81[EUR][1000 genomes]
rs9373041	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9373043	0.92[ASN][1000 genomes]
rs9375948	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9375949	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9385640	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385641	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385642	0.91[ASN][1000 genomes]
rs9389059	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9389060	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9389061	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9389062	0.83[ASN][1000 genomes]
rs9389064	0.84[ASN][1000 genomes]
rs9389066	0.83[ASN][1000 genomes]
rs9399055	0.92[ASN][1000 genomes]
rs9402493	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402494	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402497	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133581000-133599000	Weak transcription	A549	lung
2	chr6:133581400-133593800	Weak transcription	Hela-S3	cervix
3	chr6:133584400-133594000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:133585400-133593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:133585400-133593800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:133586000-133593400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:133587600-133594000	Weak transcription	Right Ventricle	heart
8	chr6:133589000-133593800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:133590000-133594000	Weak transcription	Psoas Muscle	Psoas
10	chr6:133590000-133594000	Weak transcription	Right Atrium	heart
11	chr6:133590200-133593800	Weak transcription	Pancreas	Pancrea
12	chr6:133590400-133593800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:133590400-133593800	Weak transcription	Left Ventricle	heart
14	chr6:133590400-133594000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:133591000-133593800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:133592400-133594200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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