Variant report

Variant	rs57598551
Chromosome Location	chr14:71068401-71068402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:71067095-71068651	GM12891	blood:	n/a	n/a
2	HCFC1	chr14:71066618-71068483	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71053126..71055843-chr14:71067418..71069043,2	K562	blood:
2	chr14:71063881..71065934-chr14:71068184..71070871,2	K562	blood:
3	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
4	chr14:71068006..71069934-chr5:139842681..139845055,2	MCF-7	breast:
5	chr14:71067728..71070512-chr14:71142733..71145448,2	K562	blood:

No data

Variant related genes	Relation type
MED6	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000133997	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10129782	0.87[ASN][1000 genomes]
rs10131716	0.87[ASN][1000 genomes]
rs10133963	0.86[ASN][1000 genomes]
rs10135356	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143254	0.87[ASN][1000 genomes]
rs10144535	0.82[ASN][1000 genomes]
rs10144696	0.87[ASN][1000 genomes]
rs10147143	0.87[ASN][1000 genomes]
rs10150160	0.85[ASN][1000 genomes]
rs10483830	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483832	0.87[ASN][1000 genomes]
rs11158863	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12586299	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586392	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12586441	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587666	0.80[ASN][1000 genomes]
rs12587714	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587866	0.87[ASN][1000 genomes]
rs12588723	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12589512	0.84[ASN][1000 genomes]
rs12590117	0.87[ASN][1000 genomes]
rs12590198	0.87[ASN][1000 genomes]
rs12590217	0.87[ASN][1000 genomes]
rs12590610	0.81[ASN][1000 genomes]
rs17108197	0.80[ASN][1000 genomes]
rs17108201	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17108250	0.86[AFR][1000 genomes]
rs17108264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108267	0.87[ASN][1000 genomes]
rs17108274	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108276	0.87[ASN][1000 genomes]
rs17108278	0.87[ASN][1000 genomes]
rs17108280	0.87[ASN][1000 genomes]
rs17108291	0.80[ASN][1000 genomes]
rs17113651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959477	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018131	0.86[ASN][1000 genomes]
rs2185146	0.80[ASN][1000 genomes]
rs2332431	0.87[ASN][1000 genomes]
rs2332432	0.97[ASN][1000 genomes]
rs28559756	0.80[ASN][1000 genomes]
rs28612538	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2877672	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45523543	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913411	0.91[AFR][1000 genomes]
rs55965222	0.87[ASN][1000 genomes]
rs56071949	0.82[AFR][1000 genomes]
rs56155089	0.87[ASN][1000 genomes]
rs56322604	0.87[ASN][1000 genomes]
rs56328037	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56392092	0.80[ASN][1000 genomes]
rs56687536	0.87[ASN][1000 genomes]
rs56721095	0.81[ASN][1000 genomes]
rs56922268	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57032041	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57339942	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58069917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58092588	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58777530	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58919501	0.87[ASN][1000 genomes]
rs59044667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59115232	0.87[ASN][1000 genomes]
rs59233924	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59475121	0.87[ASN][1000 genomes]
rs59599422	0.87[ASN][1000 genomes]
rs60120955	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60251828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60370428	0.87[ASN][1000 genomes]
rs60453577	0.87[ASN][1000 genomes]
rs60555424	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60860517	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60862805	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60867605	0.86[ASN][1000 genomes]
rs61388426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66572616	0.99[ASN][1000 genomes]
rs7141056	0.85[ASN][1000 genomes]
rs7141713	0.87[ASN][1000 genomes]
rs7141730	0.87[ASN][1000 genomes]
rs7145530	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146127	0.83[ASN][1000 genomes]
rs7150354	0.80[ASN][1000 genomes]
rs7154904	0.80[ASN][1000 genomes]
rs7155088	0.87[ASN][1000 genomes]
rs7155436	0.87[ASN][1000 genomes]
rs7156661	0.86[ASN][1000 genomes]
rs7157073	0.87[ASN][1000 genomes]
rs7157455	0.87[ASN][1000 genomes]
rs7157618	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157685	0.86[ASN][1000 genomes]
rs7158201	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73282126	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73282127	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73282153	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73283917	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7359112	0.87[ASN][1000 genomes]
rs74062726	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74062730	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74062733	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74062743	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74062745	0.86[AFR][1000 genomes]
rs74062746	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74062750	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74062769	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004054	0.81[ASN][1000 genomes]
rs8005893	0.87[ASN][1000 genomes]
rs8006487	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8010473	0.89[EUR][1000 genomes]
rs8012025	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016953	0.80[ASN][1000 genomes]
rs8021911	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445059	chr14:71066799-71068647	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 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	chr14:71066000-71068600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:71066600-71068600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:71068000-71068800	Flanking Active TSS	GM12878-XiMat	blood
4	chr14:71068000-71069400	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:71068400-71068600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:71068400-71068600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:71068400-71078600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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