Variant report

Variant	rs11878787
Chromosome Location	chr19:44330240-44330241
allele	A/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	POLR2A	chr19:44330197-44330320	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44257672..44259708-chr19:44329404..44331468,2	K562	blood:
2	chr19:44323198..44325701-chr19:44330167..44332994,2	K562	blood:

Variant related genes	Relation type
ZNF283	TF binding region
ENSG00000105771	Chromatin interaction
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1036246	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10405318	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10408461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412955	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10415344	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10416116	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10421861	0.81[EUR][1000 genomes]
rs10500286	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10500287	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11879541	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880651	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462507	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12608578	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13344589	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549953	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549954	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549955	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549956	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549957	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549959	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1565057	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17712224	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1964381	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1994414	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994415	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994416	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016345	0.93[ASN][1000 genomes]
rs2099356	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2163855	0.94[ASN][1000 genomes]
rs2195981	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2217669	0.91[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356403	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356432	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356433	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356434	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356438	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356439	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239948	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239949	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2883946	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs349032	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4511643	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57096959	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57133938	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59503823	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60036744	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60085895	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62114569	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62118368	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62118369	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62118371	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62118372	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509120	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7247308	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7247863	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7248807	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7249057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7253002	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253384	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253606	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254659	0.86[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7259647	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73052639	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73052665	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7508701	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8099861	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106802	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8112065	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8113286	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44325000-44331000	Weak transcription	Aorta	Aorta
2	chr19:44325000-44331000	Weak transcription	Spleen	Spleen
3	chr19:44325200-44330800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:44325200-44330800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:44325200-44330800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:44325200-44330800	Weak transcription	NHEK	skin
7	chr19:44325200-44331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:44325400-44330800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:44325400-44330800	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:44325400-44330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:44325400-44331000	Weak transcription	HMEC	breast
12	chr19:44330200-44330400	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr19:44330200-44331000	Enhancers	Lung	lung
14	chr19:44330200-44331000	Active TSS	Skeletal Muscle Male	skeletal muscle

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