Variant report

Variant	rs72716430
Chromosome Location	chr14:66192915-66192916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17753508	0.84[EUR][1000 genomes]
rs2268959	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34640387	0.82[EUR][1000 genomes]
rs34772005	0.82[EUR][1000 genomes]
rs35949016	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60708728	0.81[EUR][1000 genomes]
rs72714468	0.81[EUR][1000 genomes]
rs72714483	0.81[EUR][1000 genomes]
rs72714484	0.81[EUR][1000 genomes]
rs72714499	0.81[EUR][1000 genomes]
rs72716407	0.84[EUR][1000 genomes]
rs72716408	0.84[EUR][1000 genomes]
rs72716418	0.90[EUR][1000 genomes]
rs72716420	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72716421	0.93[EUR][1000 genomes];0.81[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	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	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
7	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
7	chr14:66186800-66193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
11	chr14:66187600-66193800	Weak transcription	Left Ventricle	heart
12	chr14:66187600-66200000	Weak transcription	Brain Substantia Nigra	brain
13	chr14:66187800-66193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:66187800-66193200	Weak transcription	Fetal Stomach	stomach
15	chr14:66188000-66193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:66188000-66193800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:66188000-66196800	Strong transcription	Primary B cells from cord blood	blood
18	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
19	chr14:66188200-66201400	Weak transcription	Psoas Muscle	Psoas
20	chr14:66188400-66193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:66188400-66193800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr14:66188400-66197000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:66188600-66194400	Strong transcription	Fetal Intestine Large	intestine
25	chr14:66188600-66195000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:66188800-66208800	Weak transcription	Liver	Liver
27	chr14:66189000-66196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:66189000-66209000	Weak transcription	NHDF-Ad	bronchial
29	chr14:66189600-66194000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:66189600-66210800	Weak transcription	NHLF	lung
31	chr14:66189800-66193600	Weak transcription	Spleen	Spleen
32	chr14:66189800-66209000	Weak transcription	HSMMtube	muscle
33	chr14:66190000-66208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:66190200-66193800	Weak transcription	Thymus	Thymus
36	chr14:66190200-66197800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:66190200-66198400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr14:66190400-66198600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:66190600-66193400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:66190600-66193800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:66190600-66196800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:66190600-66197200	Strong transcription	Primary T cells from cord blood	blood
45	chr14:66190800-66193200	Strong transcription	Adipose Nuclei	Adipose
46	chr14:66190800-66193200	ZNF genes & repeats	Dnd41	blood
47	chr14:66190800-66193800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:66190800-66193800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:66190800-66194400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:66190800-66195600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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