Variant report

Variant	rs4760295
Chromosome Location	chr12:59988597-59988598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59987463..59989577-chr12:59995845..59998372,2	MCF-7	breast:
2	chr12:59982239..59984090-chr12:59987123..59989672,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11609644	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615456	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12422902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427190	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580155	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12580166	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17559098	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17640150	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17640963	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1874638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666255	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3935589	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399358	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399359	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760296	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4760297	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5026370	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61933351	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61936271	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61936275	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61936276	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61936294	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7296400	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73109969	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312501	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7315308	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975081	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7979792	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs908095	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs954322	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954323	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59981400-59989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:59984600-59988600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:59986400-59988800	Weak transcription	Thymus	Thymus
4	chr12:59987000-59988800	Weak transcription	Stomach Mucosa	stomach
5	chr12:59987600-59988800	Enhancers	Dnd41	blood
6	chr12:59987800-59988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:59987800-59989000	Enhancers	Primary T cells from cord blood	blood
8	chr12:59988200-59988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:59988200-59989000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:59988200-59989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:59988200-59989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:59988200-59989000	Enhancers	NHDF-Ad	bronchial
13	chr12:59988200-59989200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:59988200-59989200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:59988200-59989200	Enhancers	Fetal Lung	lung
16	chr12:59988400-59988800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:59988400-59988800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:59988400-59988800	Enhancers	Fetal Kidney	kidney
19	chr12:59988400-59988800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:59988400-59988800	Enhancers	NHLF	lung
21	chr12:59988400-59989000	Enhancers	Brain Substantia Nigra	brain

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