Variant report

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10831801-10832204	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:10830958-10832840	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:10831295-10832492	K562	blood:	n/a	n/a
4	POLR2A	chr2:10832110-10832211	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10829660..10832488-chr2:10951407..10954824,3	MCF-7	breast:
2	chr2:10262306..10264072-chr2:10830698..10832625,2	K562	blood:
3	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C2-5	chr2:10830470-10832225	ENSG00000243819.3

No data

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1012580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13010024	0.90[ASN][1000 genomes]
rs17455388	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029428	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2287059	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs35516187	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73915099	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73917905	0.80[AMR][1000 genomes]
rs7603290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs7603803	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs764526	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10830800-10832600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:10830800-10834400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:10830800-10837200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:10831000-10834600	Weak transcription	Pancreas	Pancrea
5	chr2:10831000-10835000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:10831000-10835000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:10831200-10835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:10831600-10835000	Weak transcription	HepG2	liver

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