Variant report

Variant	rs56335120
Chromosome Location	chr14:72043074-72043075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55647033	1.00[AMR][1000 genomes]
rs55843519	1.00[AMR][1000 genomes]
rs55893880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56861516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57476769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376035	1.00[AMR][1000 genomes]
rs58529740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs59476175	0.82[AFR][1000 genomes]
rs59553790	0.82[AFR][1000 genomes]
rs60239886	1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060357	0.82[AFR][1000 genomes]
rs74060363	0.82[AFR][1000 genomes]
rs74060369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060386	1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72024400-72052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:72030600-72048800	Weak transcription	Fetal Kidney	kidney
3	chr14:72031000-72052600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:72035200-72053400	Weak transcription	Spleen	Spleen
5	chr14:72035600-72054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:72037200-72051000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:72039400-72064400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:72040000-72043200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:72040000-72043600	Enhancers	Fetal Heart	heart
10	chr14:72040000-72044200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:72040200-72043200	Enhancers	Fetal Lung	lung
12	chr14:72040200-72043400	Enhancers	Brain Hippocampus Middle	brain
13	chr14:72040200-72043400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:72040200-72043400	Enhancers	Osteobl	bone
15	chr14:72040400-72043400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72040800-72043400	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:72040800-72048800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:72041000-72043200	Enhancers	HSMM	muscle
19	chr14:72041000-72043600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:72041000-72043600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:72041000-72044000	Enhancers	Brain Anterior Caudate	brain
22	chr14:72041200-72043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:72041200-72048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:72041200-72050800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:72041200-72052600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:72041400-72043400	Enhancers	Brain Substantia Nigra	brain
27	chr14:72041400-72049800	Weak transcription	Fetal Thymus	thymus
28	chr14:72041400-72052600	Weak transcription	Primary B cells from cord blood	blood
29	chr14:72041400-72054200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:72041600-72043400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:72041800-72043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:72041800-72043200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:72041800-72043600	Enhancers	HUVEC	blood vessel
34	chr14:72042000-72043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:72042000-72046200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:72042000-72058400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:72042000-72058600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:72042000-72058800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:72042000-72069400	Weak transcription	Lung	lung
40	chr14:72042200-72043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:72042200-72043200	Enhancers	NH-A	brain
42	chr14:72042200-72046400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:72042200-72048800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:72042200-72049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:72042200-72054400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:72042200-72058400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:72042200-72058600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:72042200-72058600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:72042600-72043400	Enhancers	Brain Germinal Matrix	brain
50	chr14:72042800-72043200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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