Variant report

Variant	rs1275842
Chromosome Location	chr14:70374122-70374123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70368721..70371332-chr14:70372766..70374349,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10782458	0.82[MEX][hapmap]
rs1079903	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs11158823	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs12100496	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1275843	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1275844	0.82[MEX][hapmap]
rs1275845	1.00[ASN][1000 genomes]
rs1275846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1275848	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275849	0.82[MEX][hapmap]
rs1290043	1.00[ASN][1000 genomes]
rs1295830	0.94[ASW][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs1295831	0.94[ASW][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.88[AFR][1000 genomes]
rs1295832	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1296571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1299968	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107753	1.00[CHD][hapmap]
rs17107766	1.00[CHD][hapmap]
rs17174862	1.00[CHD][hapmap]
rs17558644	1.00[CEU][hapmap]
rs1903201	1.00[CHD][hapmap]
rs1952202	0.82[MEX][hapmap]
rs1952203	1.00[ASN][1000 genomes]
rs227404	1.00[CHD][hapmap]
rs227429	1.00[CHD][hapmap]
rs2766463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4899321	0.89[CEU][hapmap]
rs4899322	1.00[CEU][hapmap]
rs7145070	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7151975	1.00[CHD][hapmap]
rs8008770	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv976296	chr14:70373820-70375206	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv523796	chr14:70374122-70386743	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368600-70377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70368800-70379600	Weak transcription	Liver	Liver
5	chr14:70369000-70375800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:70369200-70376600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:70371400-70377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:70371400-70377200	Weak transcription	HepG2	liver
9	chr14:70371600-70375200	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:70372600-70375400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70373000-70374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:70373000-70375200	Weak transcription	Hela-S3	cervix
15	chr14:70373200-70377000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:70373400-70374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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