Variant report

Variant	rs8003476
Chromosome Location	chr14:37675594-37675595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37669239..37670769-chr14:37675458..37677421,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10143343	0.83[AFR][1000 genomes]
rs58215640	0.99[AFR][1000 genomes]
rs59494127	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142930	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252004	0.95[AFR][1000 genomes]
rs73252008	0.95[AFR][1000 genomes]
rs73252018	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73252024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252062	0.97[AFR][1000 genomes]
rs73254027	0.99[AFR][1000 genomes]
rs73254028	0.97[AFR][1000 genomes]
rs8009205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8011728	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8018957	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8022051	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37667800-37680400	Weak transcription	Right Ventricle	heart
2	chr14:37668200-37682800	Weak transcription	Hela-S3	cervix
3	chr14:37668200-37686000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:37671400-37685600	Weak transcription	Psoas Muscle	Psoas
5	chr14:37673400-37678200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:37674600-37675800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:37674600-37676000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr14:37675000-37675600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:37675000-37675800	ZNF genes & repeats	HepG2	liver
10	chr14:37675000-37676600	ZNF genes & repeats	A549	lung
11	chr14:37675200-37675600	ZNF genes & repeats	Gastric	stomach
12	chr14:37675200-37675800	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr14:37675200-37676000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:37675200-37676000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:37675200-37676000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:37675200-37676000	ZNF genes & repeats	Esophagus	oesophagus
17	chr14:37675200-37676200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr14:37675200-37676600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:37675200-37681800	Weak transcription	Aorta	Aorta
20	chr14:37675400-37675600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:37675400-37675600	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr14:37675400-37675800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:37675400-37675800	ZNF genes & repeats	Fetal Stomach	stomach
24	chr14:37675400-37676000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:37675400-37676000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:37675400-37676000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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