Variant report

Variant	rs74060391
Chromosome Location	chr14:72153579-72153580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55647033	1.00[AMR][1000 genomes]
rs55843519	1.00[AMR][1000 genomes]
rs55893880	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56335120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56861516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57476769	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376035	1.00[AMR][1000 genomes]
rs58529740	1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs60239886	1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060369	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060376	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060385	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060386	1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	1.00[AFR][1000 genomes];1.00[AMR][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:113 , 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	chr14:72129400-72153600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
7	chr14:72131800-72154000	Weak transcription	Fetal Heart	heart
8	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:72139400-72153600	Weak transcription	Fetal Kidney	kidney
10	chr14:72139600-72153800	Weak transcription	Fetal Lung	lung
11	chr14:72139800-72155200	Weak transcription	Placenta	Placenta
12	chr14:72140000-72156800	Weak transcription	Fetal Thymus	thymus
13	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
15	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:72142400-72153600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:72142400-72153600	Weak transcription	HSMM	muscle
18	chr14:72142600-72159000	Weak transcription	Brain Germinal Matrix	brain
19	chr14:72142600-72159000	Weak transcription	NH-A	brain
20	chr14:72142600-72159200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:72142600-72159600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:72142600-72159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr14:72148000-72161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:72148200-72156800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
30	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:72149400-72153600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:72149400-72161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:72149800-72153600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:72149800-72153800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
37	chr14:72150200-72153600	Strong transcription	Primary B cells from cord blood	blood
38	chr14:72150400-72162600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr14:72150600-72153600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:72150600-72153600	Strong transcription	Brain Hippocampus Middle	brain
41	chr14:72150600-72153800	Strong transcription	Brain Anterior Caudate	brain
42	chr14:72150600-72154600	Strong transcription	Dnd41	blood
43	chr14:72150600-72156200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:72150800-72153600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:72150800-72154800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:72150800-72156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:72151400-72157400	Weak transcription	Brain Angular Gyrus	brain
48	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
49	chr14:72151600-72154200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:72151600-72154400	Weak transcription	Ovary	ovary

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