Variant report

Variant	rs7312971
Chromosome Location	chr12:120485739-120485740
allele	C/T
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	GATA3	chr12:120485582-120486045	SH-SY5Y	brain:	n/a	chr12:120485816-120485826

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120484758..120487182-chr12:120493817..120495505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272464	TF binding region
ENSG00000255575	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10128766	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10400498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10400560	1.00[ASN][1000 genomes]
rs10849731	0.94[ASN][1000 genomes]
rs10849732	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849735	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11064986	0.84[EUR][1000 genomes]
rs11064987	0.92[ASN][1000 genomes]
rs11064988	0.93[ASN][1000 genomes]
rs11064996	0.95[ASN][1000 genomes]
rs11064998	0.85[EUR][1000 genomes]
rs11065003	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11065004	0.83[EUR][1000 genomes]
rs11833221	0.91[ASN][1000 genomes]
rs12310269	0.95[ASN][1000 genomes]
rs12310591	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311327	0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs12313413	0.88[ASN][1000 genomes]
rs12318774	0.94[ASN][1000 genomes]
rs12320793	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12322236	0.94[ASN][1000 genomes]
rs12422923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949901	1.00[ASN][1000 genomes]
rs16949946	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16949961	0.91[ASN][1000 genomes]
rs17841967	0.93[ASN][1000 genomes]
rs2239200	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239201	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239202	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2239203	0.92[ASN][1000 genomes]
rs2239204	0.91[ASN][1000 genomes]
rs2283359	0.89[ASN][1000 genomes]
rs2283360	0.90[ASN][1000 genomes]
rs2286040	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2393570	0.81[EUR][1000 genomes]
rs28726166	0.94[ASN][1000 genomes]
rs2893812	0.83[CHB][hapmap]
rs3742042	0.80[ASN][1000 genomes]
rs3742044	0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs3886910	0.84[CHB][hapmap]
rs4105713	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4351876	0.85[EUR][1000 genomes]
rs4767869	0.94[ASN][1000 genomes]
rs4767871	1.00[ASN][1000 genomes]
rs4767872	1.00[ASN][1000 genomes]
rs4767875	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767876	0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs58272825	1.00[ASN][1000 genomes]
rs59168361	0.91[ASN][1000 genomes]
rs60466490	1.00[ASN][1000 genomes]
rs6490278	0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs6490280	0.83[EUR][1000 genomes]
rs6490281	0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7295717	0.86[EUR][1000 genomes]
rs7298183	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298727	0.94[ASN][1000 genomes]
rs7300023	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7302874	0.84[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7304325	0.83[CHB][hapmap]
rs7306739	0.85[EUR][1000 genomes]
rs7312811	0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs7314959	0.84[EUR][1000 genomes]
rs7397339	1.00[ASN][1000 genomes]
rs7956436	0.85[EUR][1000 genomes]
rs7958402	0.94[ASN][1000 genomes]
rs7958497	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7960725	0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs7961738	0.85[EUR][1000 genomes]
rs7962812	0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs7965829	0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs7968557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7977281	0.83[CHB][hapmap]
rs7978927	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120480000-120499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:120480000-120499200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120481600-120492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120484400-120487800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:120484600-120485800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:120484800-120486600	Enhancers	HepG2	liver
7	chr12:120484800-120487800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:120484800-120488000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:120485000-120487000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:120485000-120487200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:120485200-120487400	Enhancers	Primary T cells from cord blood	blood
12	chr12:120485400-120486800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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