Variant report

Variant	rs613248
Chromosome Location	chr11:75105700-75105701
allele	C/G
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	CEBPB	chr11:75105538-75105735	IMR90	lung:	n/a	chr11:75105661-75105672
2	CEBPB	chr11:75105513-75105730	K562	blood:	n/a	chr11:75105661-75105672
3	CEBPB	chr11:75105512-75105727	HepG2	liver:	n/a	chr11:75105661-75105672

No.	Distal block	Cell Line	Cell type
1	chr11:75103627..75108787-chr11:75108946..75114256,11	MCF-7	breast:
2	chr11:75103317..75106896-chr11:75110221..75113394,5	MCF-7	breast:
3	chr11:75104427..75106033-chr11:75244990..75247733,2	K562	blood:
4	chr11:75104656..75107208-chr11:75134725..75136452,2	MCF-7	breast:
5	chr11:75105108..75108340-chr11:75134549..75138443,3	MCF-7	breast:
6	chr11:75105345..75108167-chr11:75238788..75240390,2	K562	blood:
7	chr11:75105664..75107948-chr11:75138997..75142594,3	MCF-7	breast:

Variant related genes	Relation type
RPS3	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11236417	0.84[ASN][1000 genomes]
rs11236420	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363921	0.82[ASN][1000 genomes]
rs3016302	0.86[ASN][1000 genomes]
rs3016304	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473233	0.86[ASN][1000 genomes]
rs473961	0.86[ASN][1000 genomes]
rs475099	0.82[ASN][1000 genomes]
rs475161	0.99[ASN][1000 genomes]
rs477625	0.86[ASN][1000 genomes]
rs477783	0.84[ASN][1000 genomes]
rs478777	0.84[ASN][1000 genomes]
rs489691	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs515343	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs521455	0.84[ASN][1000 genomes]
rs532279	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536516	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536538	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542784	0.86[ASN][1000 genomes]
rs542944	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546715	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs552129	0.86[ASN][1000 genomes]
rs567647	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs575781	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs576508	0.86[ASN][1000 genomes]
rs580152	0.92[ASN][1000 genomes]
rs598062	0.99[ASN][1000 genomes]
rs598936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs613690	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627133	0.86[ASN][1000 genomes]
rs646360	0.82[ASN][1000 genomes]
rs654079	0.82[ASN][1000 genomes]
rs663235	0.99[ASN][1000 genomes]
rs672534	0.92[ASN][1000 genomes]
rs686020	0.86[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75100200-75110200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:75100400-75106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:75100400-75106000	Weak transcription	Spleen	Spleen
4	chr11:75100400-75106200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:75100400-75106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:75100400-75110400	Weak transcription	HSMMtube	muscle
7	chr11:75100600-75110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:75101200-75105800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:75103200-75110200	Weak transcription	Hela-S3	cervix
10	chr11:75105200-75106800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:75105400-75106000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:75105400-75106200	Enhancers	K562	blood
13	chr11:75105400-75106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:75105600-75106000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:75105600-75110200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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