Variant report

Variant	rs242592
Chromosome Location	chr14:56749291-56749292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152473	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1152475	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1152476	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1152481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1152483	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1188692	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382973	0.89[ASW][hapmap]
rs1479752	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs171411	0.87[EUR][1000 genomes]
rs1979420	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054492	0.89[ASW][hapmap]
rs242385	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs242392	0.84[MEX][hapmap]
rs242393	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs242395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.94[EUR][1000 genomes]
rs242398	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242400	0.84[MEX][hapmap]
rs242406	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242414	0.91[EUR][1000 genomes]
rs242417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs242419	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242578	1.00[YRI][hapmap]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs242587	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242593	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242594	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34175054	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783668	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs402332	0.94[EUR][1000 genomes]
rs429676	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4901649	0.84[MEX][hapmap]
rs6573087	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7140808	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7145410	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7153057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153858	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs753109	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs754689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[EUR][1000 genomes]
rs754690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs899603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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:45 , 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	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
8	chr14:56735800-56750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
10	chr14:56735800-56765800	Weak transcription	NHLF	lung
11	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:56738800-56755800	Weak transcription	Lung	lung
13	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:56740000-56756000	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
17	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
18	chr14:56741000-56755800	Weak transcription	Fetal Stomach	stomach
19	chr14:56741400-56756000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:56741600-56755200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:56741600-56755200	Weak transcription	Fetal Intestine Large	intestine
23	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:56742000-56757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:56742600-56751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:56742600-56755800	Weak transcription	Aorta	Aorta
27	chr14:56743200-56755800	Weak transcription	Pancreas	Pancrea
28	chr14:56743800-56751600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:56744000-56755000	Weak transcription	Thymus	Thymus
30	chr14:56744600-56751000	Weak transcription	Fetal Intestine Small	intestine
31	chr14:56744600-56755000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:56745000-56755000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:56745000-56755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:56746000-56756000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:56746800-56752400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:56746800-56756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:56747000-56765400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:56747000-56768600	Strong transcription	Dnd41	blood
39	chr14:56747200-56756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:56748400-56762800	Weak transcription	Stomach Mucosa	stomach
41	chr14:56748600-56756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:56749000-56755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:56749000-56762400	Weak transcription	Gastric	stomach
44	chr14:56749200-56750000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:56749200-56755000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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