Variant report

Variant	rs247412
Chromosome Location	chr3:42387540-42387541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1015296	0.80[ASN][1000 genomes]
rs1015297	0.80[ASN][1000 genomes]
rs12498026	0.80[ASN][1000 genomes]
rs13061663	0.80[ASN][1000 genomes]
rs13077160	0.81[ASN][1000 genomes]
rs13077349	0.80[ASN][1000 genomes]
rs13080086	0.80[ASN][1000 genomes]
rs13084687	0.80[ASN][1000 genomes]
rs13086635	0.80[ASN][1000 genomes]
rs13098757	0.80[ASN][1000 genomes]
rs13098758	0.80[ASN][1000 genomes]
rs13099012	0.80[ASN][1000 genomes]
rs17030429	0.80[ASN][1000 genomes]
rs2240862	0.80[ASN][1000 genomes]
rs2240863	0.80[ASN][1000 genomes]
rs247416	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33511	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33910510	0.80[ASN][1000 genomes]
rs35547241	0.80[ASN][1000 genomes]
rs55642108	0.80[ASN][1000 genomes]
rs55819908	0.80[ASN][1000 genomes]
rs56200813	0.80[ASN][1000 genomes]
rs56267682	0.80[ASN][1000 genomes]
rs56345349	0.80[ASN][1000 genomes]
rs6442135	0.80[ASN][1000 genomes]
rs6442136	0.80[ASN][1000 genomes]
rs6442137	0.80[ASN][1000 genomes]
rs6765610	0.80[ASN][1000 genomes]
rs6799449	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34472	chr3:42314655-42391480	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2756986	chr3:42360106-42403380	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv2759144	chr3:42360106-42403380	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv1008543	chr3:42372639-42401033	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42385800-42389800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr3:42386400-42388200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr3:42386600-42391600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:42386800-42388000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:42386800-42388000	Enhancers	Thymus	Thymus
6	chr3:42386800-42390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:42387000-42387800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:42387000-42387800	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:42387200-42387600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr3:42387200-42387600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr3:42387200-42388000	Enhancers	K562	blood
12	chr3:42387200-42388200	Enhancers	Fetal Thymus	thymus
13	chr3:42387400-42387600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:42387400-42387600	Enhancers	Brain Germinal Matrix	brain
15	chr3:42387400-42387800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr3:42387400-42389800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:42387400-42390400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr3:42387400-42390600	Enhancers	Primary T helper cells fromperipheralblood	blood

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