Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51910169..51913793-chr13:51914133..51918271,3	K562	blood:
2	chr13:51909461..51913387-chr13:51914393..51916609,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253309	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11148219	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs12100084	0.82[EUR][1000 genomes]
rs12100112	0.82[EUR][1000 genomes]
rs17790811	0.83[TSI][hapmap]
rs4941699	0.84[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4942995	0.84[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4942996	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4942999	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs61956917	0.82[EUR][1000 genomes]
rs61956937	0.82[EUR][1000 genomes]
rs61956942	0.82[EUR][1000 genomes]
rs61956952	0.82[EUR][1000 genomes]
rs73195996	0.82[EUR][1000 genomes]
rs7338174	0.85[CEU][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7992891	0.84[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs9316537	0.85[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9535645	0.93[ASW][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9563049	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs9563055	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs9568574	0.83[TSI][hapmap]
rs9568575	0.83[TSI][hapmap]
rs9568578	0.83[TSI][hapmap]
rs9568580	0.85[JPT][hapmap]
rs9568586	0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs9568594	0.82[EUR][1000 genomes]
rs9568596	0.82[EUR][1000 genomes]
rs9591402	0.85[ASW][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.87[AFR][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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51900200-51914000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:51900800-51913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:51903400-51913600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:51905000-51913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:51905400-51915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:51906000-51917200	Weak transcription	HSMM	muscle
8	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
9	chr13:51906200-51935400	Weak transcription	HSMMtube	muscle
10	chr13:51906800-51917200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:51907800-51933200	Weak transcription	Primary T cells from cord blood	blood
12	chr13:51909800-51917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:51910000-51913400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:51910800-51911800	Enhancers	Pancreas	Pancrea
15	chr13:51911000-51913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:51911200-51913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:51911200-51920400	Weak transcription	H1 Cell Line	embryonic stem cell

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