Variant report

Variant	rs6573087
Chromosome Location	chr14:56695684-56695685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1028972	0.89[EUR][1000 genomes]
rs1152473	0.89[EUR][1000 genomes]
rs1152474	0.89[EUR][1000 genomes]
rs1152476	0.89[EUR][1000 genomes]
rs1152481	0.89[EUR][1000 genomes]
rs1152483	0.89[EUR][1000 genomes]
rs1188692	0.89[EUR][1000 genomes]
rs1479752	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171411	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1979420	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242385	0.86[EUR][1000 genomes]
rs242393	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs242395	0.91[EUR][1000 genomes]
rs242398	0.91[EUR][1000 genomes]
rs242406	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs242407	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs242410	0.91[EUR][1000 genomes]
rs242414	0.87[EUR][1000 genomes]
rs242417	0.89[EUR][1000 genomes]
rs242419	0.91[EUR][1000 genomes]
rs242579	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs242587	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs242588	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs242592	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs242593	0.89[EUR][1000 genomes]
rs242594	0.89[EUR][1000 genomes]
rs34175054	0.89[EUR][1000 genomes]
rs375156	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783668	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs402332	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs429676	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140808	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145410	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7153057	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153858	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753109	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754689	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754690	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899603	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:56686800-56702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
4	chr14:56689600-56699200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:56691800-56696000	Strong transcription	Thymus	Thymus
8	chr14:56692000-56696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:56692400-56703000	Weak transcription	Aorta	Aorta
10	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach
11	chr14:56692600-56701400	Weak transcription	Ovary	ovary
12	chr14:56692600-56703200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:56692800-56699200	Weak transcription	Stomach Mucosa	stomach
14	chr14:56693000-56704000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:56693200-56703000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:56693200-56724400	Weak transcription	Gastric	stomach
17	chr14:56694000-56701600	Weak transcription	Pancreas	Pancrea
18	chr14:56694000-56723000	Weak transcription	Lung	lung
19	chr14:56694200-56695800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr14:56694800-56696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:56695000-56696800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr14:56695200-56696000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr14:56695200-56702200	Weak transcription	Dnd41	blood
24	chr14:56695400-56696000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:56695400-56696000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:56695400-56696000	ZNF genes & repeats	Fetal Thymus	thymus
27	chr14:56695400-56696800	ZNF genes & repeats	Fetal Intestine Small	intestine

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