Variant report

Variant	rs7093098
Chromosome Location	chr10:50750682-50750683
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr10:50750591-50750762	K562	blood:	n/a	n/a
2	SP1	chr10:50750454-50750783	H1-hESC	embryonic stem cell:	n/a	n/a
3	IRF1	chr10:50750566-50750723	K562	blood:	n/a	n/a
4	ARID3A	chr10:50750441-50750815	K562	blood:	n/a	n/a
5	CCNT2	chr10:50750488-50750758	K562	blood:	n/a	n/a
6	ATF1	chr10:50750403-50750790	K562	blood:	n/a	n/a
7	TBL1XR1	chr10:50750496-50750761	K562	blood:	n/a	n/a
8	JUND	chr10:50750434-50750792	K562	blood:	n/a	n/a
9	CUX1	chr10:50750532-50750728	K562	blood:	n/a	n/a
10	TAL1	chr10:50750442-50750824	K562	blood:	n/a	n/a
11	TEAD4	chr10:50750402-50750841	K562	blood:	n/a	n/a
12	RCOR1	chr10:50750417-50750788	K562	blood:	n/a	n/a
13	ZMIZ1	chr10:50750507-50750741	K562	blood:	n/a	n/a
14	EP300	chr10:50750502-50750813	K562	blood:	n/a	n/a
15	GATA2	chr10:50750376-50750782	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50749402..50751390-chr10:50767694..50770332,2	K562	blood:
2	chr10:50746152..50748748-chr10:50749437..50751301,2	K562	blood:

No data

Variant related genes	Relation type
ERCC6	TF binding region
PGBD3	TF binding region
ERCC6-PGBD3	TF binding region
ENSG00000225830	Chromatin interaction
ENSG00000258838	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1130028	0.95[EUR][1000 genomes]
rs11812473	0.93[EUR][1000 genomes]
rs11815156	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11819019	0.95[EUR][1000 genomes]
rs17010079	0.93[EUR][1000 genomes]
rs17719092	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17775180	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2228526	0.96[EUR][1000 genomes]
rs2228527	0.95[EUR][1000 genomes]
rs2228529	0.95[EUR][1000 genomes]
rs36079558	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253011	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253028	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253042	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253049	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253055	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253101	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4253106	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4253121	0.96[EUR][1000 genomes]
rs4253165	0.96[EUR][1000 genomes]
rs4253166	0.96[EUR][1000 genomes]
rs4253193	0.96[EUR][1000 genomes]
rs56164647	0.95[EUR][1000 genomes]
rs58002245	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58711755	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58912975	0.92[EUR][1000 genomes]
rs59898389	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846612	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846615	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846616	0.98[EUR][1000 genomes]
rs61846617	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846618	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61846620	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846637	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61850971	0.92[EUR][1000 genomes]
rs61850976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7073830	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7079192	0.88[EUR][1000 genomes]
rs7097122	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7097866	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909222	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7920256	0.96[EUR][1000 genomes]
rs971667	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50748000-50750800	Weak transcription	Right Atrium	heart
2	chr10:50748200-50752800	Weak transcription	Hela-S3	cervix
3	chr10:50750200-50757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:50750400-50750800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:50750400-50750800	Enhancers	K562	blood
6	chr10:50750400-50751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:50750600-50750800	Enhancers	H9 Cell Line	embryonic stem cell

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