Variant report

Variant	rs10993212
Chromosome Location	chr9:97254415-97254416
allele	G/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	SPI1	chr9:97254194-97254861	GM12878	blood:	n/a	n/a
2	RUNX3	chr9:97254367-97254730	GM12878	blood:	n/a	n/a
3	BATF	chr9:97254388-97254700	GM12878	blood:	n/a	chr9:97254488-97254498
4	ATF2	chr9:97254373-97254805	GM12878	blood:	n/a	n/a
5	POU2F2	chr9:97254370-97254913	GM12891	blood:	n/a	chr9:97254510-97254525
6	JUND	chr9:97254366-97254636	HepG2	liver:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254496 chr9:97254485-97254497
7	BATF	chr9:97254351-97254686	GM12878	blood:	n/a	chr9:97254488-97254498
8	RUNX3	chr9:97254361-97254807	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:97254340-97254738	GM12878	blood:	n/a	n/a
10	SPI1	chr9:97254323-97254843	GM12891	blood:	n/a	n/a
11	PAX5	chr9:97254382-97254693	GM12878	blood:	n/a	n/a
12	SPI1	chr9:97254366-97254733	GM12891	blood:	n/a	n/a
13	POU2F2	chr9:97254364-97254731	GM12878	blood:	n/a	chr9:97254510-97254525
14	SPI1	chr9:97254415-97254771	GM12878	blood:	n/a	n/a
15	PAX5	chr9:97254411-97254878	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:97254407-97254725	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224245	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10821343	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10821344	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10821349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10821350	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10821351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10993185	1.00[AMR][1000 genomes]
rs10993195	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10993200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10993202	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10993208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10993209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335976	0.93[AMR][1000 genomes]
rs12344077	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12349965	0.95[EUR][1000 genomes]
rs12352497	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13292835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351644	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34117319	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7026123	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7048293	1.00[AMR][1000 genomes]
rs71263779	1.00[AMR][1000 genomes]
rs7467208	1.00[AMR][1000 genomes]
rs7863750	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7867289	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7874524	0.83[AMR][1000 genomes]
rs9886806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv893594	chr9:97221463-97283226	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv972423	chr9:97243765-97254596	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv614916	chr9:97245822-97273659	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv969694	chr9:97250110-97254596	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241800-97262800	Weak transcription	Liver	Liver
2	chr9:97254000-97255400	Enhancers	GM12878-XiMat	blood

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