Variant report

Variant	rs242590
Chromosome Location	chr14:56742148-56742149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56735282..56738108-chr14:56741731..56743329,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs173352	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054491	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2054492	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2086326	0.84[AMR][1000 genomes]
rs242578	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242583	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143949	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7140444	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs899604	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv976835	chr14:56740554-56746606	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
2	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:56718400-56755800	Weak transcription	Ovary	ovary
4	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:56724600-56755200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:56725400-56746800	Weak transcription	Dnd41	blood
7	chr14:56725600-56742200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:56731200-56747800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56731400-56748000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:56733200-56744000	Weak transcription	Gastric	stomach
11	chr14:56733800-56746400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:56735800-56750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
16	chr14:56735800-56765800	Weak transcription	NHLF	lung
17	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:56738800-56755800	Weak transcription	Lung	lung
19	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
20	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:56739000-56746800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:56739400-56743000	Weak transcription	Thymus	Thymus
23	chr14:56740000-56756000	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
25	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
26	chr14:56741000-56755800	Weak transcription	Fetal Stomach	stomach
27	chr14:56741400-56756000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:56741600-56755200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:56741600-56755200	Weak transcription	Fetal Intestine Large	intestine
31	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:56741800-56742600	Enhancers	Aorta	Aorta
33	chr14:56741800-56743200	Enhancers	Pancreas	Pancrea
34	chr14:56741800-56744600	Strong transcription	Fetal Intestine Small	intestine
35	chr14:56742000-56757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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