Variant report

Variant	rs8004070
Chromosome Location	chr14:65783386-65783387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10498517	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844433	0.83[ASN][1000 genomes]
rs4902382	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4902384	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57441951	0.91[ASN][1000 genomes]
rs58184395	0.82[ASN][1000 genomes]
rs61988967	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61988970	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61989029	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989030	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61989032	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61989036	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7152470	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73278015	0.83[ASN][1000 genomes]
rs746835	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8004507	0.86[AMR][1000 genomes];0.95[EUR][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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65769400-65783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:65772400-65787800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:65779400-65787800	Weak transcription	Fetal Intestine Large	intestine
4	chr14:65779800-65784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:65780000-65783800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:65781000-65783800	Enhancers	Primary B cells from cord blood	blood
7	chr14:65781400-65786200	Weak transcription	Stomach Mucosa	stomach
8	chr14:65781600-65784800	Weak transcription	Primary T cells from cord blood	blood
9	chr14:65781600-65787600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:65781800-65785200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:65782000-65784800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:65782600-65783400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:65783000-65783600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:65783000-65784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:65783200-65783800	Weak transcription	Small Intestine	intestine
16	chr14:65783200-65783800	Active TSS	GM12878-XiMat	blood
17	chr14:65783200-65784800	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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