Variant report

Variant	rs242595
Chromosome Location	chr14:56745339-56745340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56656212..56658616-chr14:56744495..56746783,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1188693	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1188694	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1201403	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12883776	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1756053	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242580	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242584	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:38 , 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	chr14:56731200-56747800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:56731400-56748000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:56733800-56746400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
12	chr14:56735800-56750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
14	chr14:56735800-56765800	Weak transcription	NHLF	lung
15	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:56738800-56755800	Weak transcription	Lung	lung
17	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:56739000-56746800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:56740000-56756000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
22	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
23	chr14:56741000-56755800	Weak transcription	Fetal Stomach	stomach
24	chr14:56741400-56756000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:56741600-56755200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:56741600-56755200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:56742000-56757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:56742600-56751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:56742600-56755800	Weak transcription	Aorta	Aorta
32	chr14:56743200-56755800	Weak transcription	Pancreas	Pancrea
33	chr14:56743800-56751600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:56744000-56755000	Weak transcription	Thymus	Thymus
35	chr14:56744600-56751000	Weak transcription	Fetal Intestine Small	intestine
36	chr14:56744600-56755000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:56745000-56755000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:56745000-56755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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