Variant report

Variant	rs1493748
Chromosome Location	chr12:44933175-44933176
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44922711..44925498-chr12:44932018..44933625,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1037435	0.94[JPT][hapmap]
rs1037436	0.94[JPT][hapmap]
rs10785501	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10785505	0.95[JPT][hapmap]
rs10785506	0.95[JPT][hapmap]
rs10785507	0.89[JPT][hapmap]
rs10785509	0.89[JPT][hapmap]
rs10785511	0.89[JPT][hapmap]
rs10880649	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880650	0.99[ASN][1000 genomes]
rs10880651	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10880653	0.89[JPT][hapmap]
rs10880654	0.89[JPT][hapmap]
rs11182530	0.98[ASN][1000 genomes]
rs11182531	0.96[ASN][1000 genomes]
rs1349621	0.95[JPT][hapmap]
rs1376997	0.95[JPT][hapmap]
rs1377003	0.80[JPT][hapmap]
rs1377280	0.94[JPT][hapmap]
rs1452256	0.94[JPT][hapmap]
rs1452257	0.95[JPT][hapmap]
rs1552860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869253	0.94[JPT][hapmap]
rs1901556	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1908179	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2198338	0.92[ASN][1000 genomes]
rs2218986	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2859835	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4143007	0.94[JPT][hapmap]
rs4768555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930799	0.96[ASN][1000 genomes]
rs728065	0.94[JPT][hapmap]
rs7953009	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966066	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3359872	chr12:44933154-44933423	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44904600-44936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:44909200-44939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:44924400-44939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:44924800-44939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:44925600-44936200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:44925800-44934000	Weak transcription	Fetal Brain Male	brain
8	chr12:44926400-44936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:44932400-44937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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