Variant report

Variant	rs242578
Chromosome Location	chr14:56728945-56728946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10150333	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs11158082	0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1117310	0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1152467	0.80[JPT][hapmap]
rs1382973	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs173352	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2054491	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2054492	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2086326	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs242579	1.00[YRI][hapmap]
rs242583	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242588	0.89[YRI][hapmap]
rs242590	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242591	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242592	1.00[YRI][hapmap]
rs375156	1.00[YRI][hapmap]
rs3783675	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3844020	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3912201	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4143949	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs429676	1.00[YRI][hapmap]
rs7140444	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7140808	1.00[YRI][hapmap]
rs7145330	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7151741	0.96[CHB][hapmap];0.83[JPT][hapmap]
rs7153057	1.00[YRI][hapmap]
rs899603	0.80[YRI][hapmap]
rs899604	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.89[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56716600-56737800	Weak transcription	Aorta	Aorta
2	chr14:56717800-56737800	Weak transcription	Thymus	Thymus
3	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
4	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:56718400-56755800	Weak transcription	Ovary	ovary
6	chr14:56718600-56735200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:56723000-56735400	Weak transcription	Pancreas	Pancrea
9	chr14:56724600-56755200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:56725400-56746800	Weak transcription	Dnd41	blood
11	chr14:56725600-56742200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:56728800-56729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:56728800-56729200	Enhancers	Pancreatic Islets	Pancreatic Islet

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