Variant report

Variant	rs72714499
Chromosome Location	chr14:66042459-66042460
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:33)

rs_ID	r²[population]
rs10142283	0.97[ASN][1000 genomes]
rs10152007	0.97[ASN][1000 genomes]
rs10483776	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17753508	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268959	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34640387	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34772005	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35949016	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60708728	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6573619	0.97[ASN][1000 genomes]
rs7146993	0.97[ASN][1000 genomes]
rs72714423	0.85[EUR][1000 genomes]
rs72714428	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72714433	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714436	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714439	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714440	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714442	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714447	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72714460	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714461	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714468	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714478	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72714482	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72714483	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714484	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72716407	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716408	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716418	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72716420	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72716421	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72716430	0.81[EUR][1000 genomes]
rs8016322	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65995400-66061000	Weak transcription	Gastric	stomach
2	chr14:66021400-66046400	Weak transcription	Thymus	Thymus
3	chr14:66021800-66043000	Weak transcription	Fetal Intestine Small	intestine
4	chr14:66022400-66047800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:66022400-66052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:66023200-66052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:66023200-66054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:66026800-66048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:66027600-66044200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:66028800-66042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:66028800-66044200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:66032000-66060200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:66032600-66060800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:66033200-66053600	Weak transcription	Small Intestine	intestine
15	chr14:66034200-66044600	Weak transcription	NHDF-Ad	bronchial
16	chr14:66034200-66045400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:66034400-66045800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:66034600-66046400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:66035800-66054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:66035800-66057400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:66039200-66054400	Weak transcription	Primary T cells from cord blood	blood
22	chr14:66039600-66047600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:66039800-66043200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:66039800-66058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:66039800-66061200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:66040600-66043400	Enhancers	Brain Angular Gyrus	brain
27	chr14:66041000-66043000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:66041000-66044800	Weak transcription	HUVEC	blood vessel
29	chr14:66041000-66045600	Weak transcription	Fetal Intestine Large	intestine
30	chr14:66041000-66059000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:66041000-66060800	Weak transcription	Dnd41	blood
32	chr14:66041200-66042800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:66041200-66060800	Weak transcription	GM12878-XiMat	blood
34	chr14:66041200-66061000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr14:66041400-66043000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:66041600-66049400	Weak transcription	Primary B cells from cord blood	blood
37	chr14:66041800-66043400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:66042000-66042600	Enhancers	Brain Hippocampus Middle	brain
39	chr14:66042200-66042600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:66042400-66043200	Enhancers	Brain Germinal Matrix	brain

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