Variant report

Variant	rs73280924
Chromosome Location	chr14:55861559-55861560
allele	A/G
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:16)

rs_ID	r²[population]
rs17128414	1.00[AFR][1000 genomes]
rs17128433	1.00[AFR][1000 genomes]
rs1815582	0.88[AFR][1000 genomes]
rs57623127	1.00[AFR][1000 genomes]
rs58780994	1.00[AFR][1000 genomes]
rs73265830	1.00[AFR][1000 genomes]
rs73265831	1.00[AFR][1000 genomes]
rs73265861	1.00[AFR][1000 genomes]
rs73279069	1.00[AFR][1000 genomes]
rs73279076	1.00[AFR][1000 genomes]
rs73279087	1.00[AFR][1000 genomes]
rs73279091	1.00[AFR][1000 genomes]
rs73279095	0.94[AFR][1000 genomes]
rs73279099	0.88[AFR][1000 genomes]
rs73279100	1.00[AFR][1000 genomes]
rs73280917	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv977470	chr14:55858644-55862313	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
5	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:55848800-55861800	Weak transcription	HUVEC	blood vessel
7	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:55849800-55865200	Weak transcription	A549	lung
12	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
13	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
15	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
16	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:55852400-55865400	Weak transcription	Colonic Mucosa	Colon
18	chr14:55852800-55865200	Weak transcription	NHEK	skin
19	chr14:55853000-55865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:55853600-55865600	Weak transcription	Fetal Kidney	kidney
22	chr14:55854000-55868400	Weak transcription	Gastric	stomach
23	chr14:55854200-55861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:55854200-55866400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:55854400-55865400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:55855200-55862200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:55855400-55865200	Weak transcription	HMEC	breast
30	chr14:55855800-55865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55855800-55865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:55856000-55865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55856000-55865200	Weak transcription	Brain Angular Gyrus	brain
34	chr14:55856200-55865200	Weak transcription	NH-A	brain
35	chr14:55856200-55865600	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:55856200-55865800	Weak transcription	HSMMtube	muscle
37	chr14:55856200-55868600	Weak transcription	Psoas Muscle	Psoas
38	chr14:55856200-55876200	Weak transcription	Fetal Brain Male	brain
39	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
40	chr14:55856400-55865400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:55856400-55870400	Weak transcription	GM12878-XiMat	blood
42	chr14:55856400-55876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55856600-55861600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:55856600-55869800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:55856600-55876600	Weak transcription	Fetal Brain Female	brain
47	chr14:55856800-55861600	Weak transcription	Fetal Thymus	thymus
48	chr14:55856800-55862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:55856800-55862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:55856800-55863800	Weak transcription	NHDF-Ad	bronchial

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