Variant report

Variant	rs10257302
Chromosome Location	chr7:11012373-11012374
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	MYC	chr7:11012173-11014780	A549	lung:	n/a	n/a
2	NRF1	chr7:11012362-11014680	SK-N-SH	brain:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013441-11013452 chr7:11013424-11013435 chr7:11013442-11013453
3	MAX	chr7:11012348-11014515	NB4	blood:	n/a	n/a
4	USF1	chr7:11012260-11012512	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr7:11011822-11016195	SK-N-SH	brain:	n/a	n/a
6	MYC	chr7:11012338-11014589	NB4	blood:	n/a	n/a
7	USF2	chr7:11012323-11013060	Hela-S3	cervix:	n/a	n/a
8	SP1	chr7:11012350-11013460	H1-hESC	embryonic stem cell:	n/a	chr7:11013277-11013289 chr7:11013274-11013288 chr7:11013277-11013289
9	HCFC1	chr7:11012246-11014602	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:11012257-11014740	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:11012257-11013754	HepG2	liver:	n/a	n/a
12	TCF12	chr7:11012360-11013896	A549	lung:	n/a	chr7:11013461-11013471
13	MAX	chr7:11012366-11013709	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr7:11012356-11013681	MCF-7	breast:	n/a	chr7:11013320-11013328 chr7:11013443-11013452 chr7:11013319-11013329 chr7:11013320-11013328 chr7:11013319-11013330 chr7:11013320-11013327

No.	Distal block	Cell Line	Cell type
1	chr7:11007370..11009612-chr7:11011024..11013340,2	MCF-7	breast:
2	chr7:10972277..10974447-chr7:11011761..11013440,2	K562	blood:
3	chr7:10996449..11000162-chr7:11009366..11013332,3	K562	blood:
4	chr7:11010971..11012619-chr7:11259384..11261240,2	MCF-7	breast:
5	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
6	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
7	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
8	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10085765	0.89[AFR][1000 genomes]
rs10226402	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229335	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10230399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231887	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10231890	0.81[AFR][1000 genomes]
rs10233382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235587	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10237004	0.81[AFR][1000 genomes]
rs10242027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242109	0.93[LWK][hapmap]
rs10247314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252209	1.00[AMR][1000 genomes]
rs10253250	1.00[LWK][hapmap]
rs10259691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261168	0.92[AFR][1000 genomes]
rs10261866	0.81[AFR][1000 genomes]
rs10262117	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10263081	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10269659	0.81[AFR][1000 genomes]
rs10269929	0.81[AFR][1000 genomes]
rs10270849	1.00[AMR][1000 genomes]
rs10276348	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10276786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277767	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10277787	0.81[AFR][1000 genomes]
rs10280227	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10281259	0.81[AFR][1000 genomes]
rs10281970	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13438244	0.83[AFR][1000 genomes]
rs28391022	0.81[AFR][1000 genomes]
rs28403972	1.00[AMR][1000 genomes]
rs28444275	1.00[AMR][1000 genomes]
rs28454278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28492913	1.00[AMR][1000 genomes]
rs28502238	0.81[AFR][1000 genomes]
rs28510200	1.00[AMR][1000 genomes]
rs28630530	1.00[AFR][1000 genomes]
rs28817695	0.81[AFR][1000 genomes]
rs4385368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958196	1.00[YRI][hapmap]
rs6968254	1.00[AMR][1000 genomes]
rs6970176	0.81[AFR][1000 genomes]
rs6970358	0.81[AFR][1000 genomes]
rs6977308	0.81[AFR][1000 genomes]
rs6977614	0.81[AFR][1000 genomes]
rs73286507	1.00[AMR][1000 genomes]
rs73286514	1.00[AMR][1000 genomes]
rs73286519	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3447442	chr7:10985761-11013298	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11005400-11012400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:11011000-11012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:11011200-11012400	Weak transcription	Dnd41	blood
4	chr7:11012200-11012400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:11012200-11012400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:11012200-11012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:11012200-11012400	Enhancers	Hela-S3	cervix
8	chr7:11012200-11012400	Flanking Active TSS	HepG2	liver
9	chr7:11012200-11012600	Flanking Active TSS	A549	lung
10	chr7:11012200-11014400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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