Variant report

Variant	rs71463216
Chromosome Location	chr12:59972130-59972131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59971852..59974458-chr12:59976110..59977979,2	K562	blood:
2	chr12:59970227..59972157-chr12:59989473..59991716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12818777	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12831297	0.86[AFR][1000 genomes]
rs35285993	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35831221	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7315997	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59969800-59972200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:59970200-59973400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:59970600-59972800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:59970600-59973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:59970800-59973000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:59970800-59973000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:59970800-59974000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:59971000-59972600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:59971000-59972600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:59971000-59973000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:59971000-59973400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:59971200-59972800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:59971200-59972800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:59971200-59973000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:59971200-59973600	Enhancers	Fetal Thymus	thymus
16	chr12:59971200-59973600	Enhancers	Thymus	Thymus
17	chr12:59971600-59972800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:59971800-59972200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr12:59971800-59972400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr12:59971800-59972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:59972000-59972400	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:59972000-59972800	Flanking Active TSS	Dnd41	blood

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