Variant report

Variant	rs10207300
Chromosome Location	chr2:181840207-181840208
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	STAT3	chr2:181839813-181840497	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:181839700..181842326-chr2:181868169..181869713,2	K562	blood:
2	chr2:181837058..181842990-chr2:181843184..181846817,5	MCF-7	breast:
3	chr2:181839506..181842433-chr2:181971642..181974430,2	K562	blood:
4	chr2:181837425..181840386-chr2:181840573..181842119,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	Chromatin interaction
ENSG00000236153	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10183291	0.87[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10194801	0.85[AMR][1000 genomes]
rs10195697	0.87[AMR][1000 genomes]
rs10198925	0.85[AMR][1000 genomes]
rs10209672	0.87[AMR][1000 genomes]
rs10432490	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes]
rs10803945	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930949	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930951	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes]
rs11685279	0.87[AMR][1000 genomes]
rs11689802	0.87[AMR][1000 genomes]
rs11893940	0.85[AMR][1000 genomes]
rs11902305	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475075	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12477135	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12613470	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12614444	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13385287	0.85[AMR][1000 genomes]
rs13410612	0.85[AMR][1000 genomes]
rs2030242	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34865829	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4261681	0.85[AMR][1000 genomes]
rs4286243	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4414647	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4439925	0.84[AMR][1000 genomes]
rs4471850	0.84[ASN][1000 genomes]
rs4508560	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs4541221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4574074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4618005	0.84[ASN][1000 genomes]
rs4638755	0.87[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667036	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667055	0.84[AMR][1000 genomes]
rs6729509	0.80[TSI][hapmap]
rs73041032	0.87[AMR][1000 genomes]
rs7603027	0.92[AMR][1000 genomes]
rs873256	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][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	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181839600-181844200	Weak transcription	HSMM	muscle
2	chr2:181840000-181840400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:181840200-181840600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:181840200-181840600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:181840200-181840600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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