Variant report

Variant	rs7570421
Chromosome Location	chr2:181975639-181975640
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	TCF12	chr2:181975630-181976360	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000238171	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11885073	1.00[AMR][1000 genomes]
rs11885499	1.00[AMR][1000 genomes]
rs11890538	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891901	1.00[AMR][1000 genomes]
rs11894969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11896331	1.00[AMR][1000 genomes]
rs11899193	1.00[AMR][1000 genomes]
rs11900496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11901821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13025293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867374	1.00[AMR][1000 genomes]
rs55742474	1.00[AMR][1000 genomes]
rs55980983	1.00[AMR][1000 genomes]
rs56276437	1.00[AMR][1000 genomes]
rs56370920	1.00[AMR][1000 genomes]
rs57670948	1.00[AMR][1000 genomes]
rs57698592	1.00[AMR][1000 genomes]
rs59304478	1.00[AMR][1000 genomes]
rs59850603	1.00[AMR][1000 genomes]
rs60753078	1.00[AMR][1000 genomes]
rs61244658	1.00[AMR][1000 genomes]
rs6704898	1.00[AMR][1000 genomes]
rs6715119	1.00[AMR][1000 genomes]
rs6716249	1.00[AMR][1000 genomes]
rs6717911	1.00[AMR][1000 genomes]
rs6721914	1.00[AMR][1000 genomes]
rs6737799	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740342	1.00[AMR][1000 genomes]
rs6751625	1.00[AMR][1000 genomes]
rs73974706	1.00[AMR][1000 genomes]
rs73974713	1.00[AMR][1000 genomes]
rs73974714	1.00[AMR][1000 genomes]
rs73974721	1.00[AMR][1000 genomes]
rs73974754	1.00[AMR][1000 genomes]
rs73974755	1.00[AMR][1000 genomes]
rs73974756	1.00[AMR][1000 genomes]
rs73974761	1.00[AMR][1000 genomes]
rs73974765	1.00[AMR][1000 genomes]
rs73974766	1.00[AMR][1000 genomes]
rs73974803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976805	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977146	1.00[AMR][1000 genomes]
rs73977147	1.00[AMR][1000 genomes]
rs73977148	1.00[AMR][1000 genomes]
rs73977149	1.00[AMR][1000 genomes]
rs73977152	1.00[AMR][1000 genomes]
rs73977153	1.00[AMR][1000 genomes]
rs73977154	1.00[AMR][1000 genomes]
rs73977156	1.00[AMR][1000 genomes]
rs9967843	1.00[AMR][1000 genomes]
rs9967879	1.00[AMR][1000 genomes]

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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181972400-181976400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:181973800-181985000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:181974000-181985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:181974200-181980200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:181974600-181980800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:181975000-181975800	Enhancers	Primary neutrophils fromperipheralblood	blood

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