Variant report

Variant	rs72729973
Chromosome Location	chr14:72155109-72155110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72153946..72156828-chr14:72162429..72163999,2	K562	blood:
2	chr14:72152429..72155391-chr14:72157958..72160807,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12147154	0.83[ASN][1000 genomes]
rs17092070	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60065332	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72729956	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
6	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:72139800-72155200	Weak transcription	Placenta	Placenta
8	chr14:72140000-72156800	Weak transcription	Fetal Thymus	thymus
9	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
11	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:72142600-72159000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:72142600-72159000	Weak transcription	NH-A	brain
14	chr14:72142600-72159200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:72142600-72159600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:72142600-72159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:72148000-72161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:72148200-72156800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
24	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr14:72149400-72161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
28	chr14:72150400-72162600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:72150600-72156200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:72150800-72156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:72151400-72157400	Weak transcription	Brain Angular Gyrus	brain
32	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
33	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
34	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:72151800-72156800	Weak transcription	Pancreas	Pancrea
36	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
37	chr14:72152200-72165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:72152400-72155200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:72152400-72159200	Weak transcription	Lung	lung
40	chr14:72152400-72159400	Weak transcription	Aorta	Aorta
41	chr14:72152400-72159600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:72152400-72168800	Weak transcription	Esophagus	oesophagus
43	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:72152600-72155200	Weak transcription	HepG2	liver
45	chr14:72152600-72156400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:72152600-72156800	Weak transcription	Primary T cells from cord blood	blood
47	chr14:72152600-72156800	Weak transcription	NHEK	skin
48	chr14:72152600-72157000	Weak transcription	Spleen	Spleen
49	chr14:72152600-72157800	Weak transcription	Gastric	stomach
50	chr14:72152600-72159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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