Variant report

Variant	rs56297478
Chromosome Location	chr5:14682693-14682694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11952550	1.00[AMR][1000 genomes]
rs11953822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956097	1.00[AMR][1000 genomes]
rs16903651	1.00[AMR][1000 genomes]
rs55714227	1.00[AMR][1000 genomes]
rs55957515	1.00[AMR][1000 genomes]
rs56044433	1.00[AMR][1000 genomes]
rs56155042	1.00[AMR][1000 genomes]
rs56350972	1.00[AMR][1000 genomes]
rs60753214	0.83[AMR][1000 genomes]
rs73749521	1.00[AMR][1000 genomes]
rs73749524	1.00[AMR][1000 genomes]
rs73749525	1.00[AMR][1000 genomes]
rs73749526	1.00[AMR][1000 genomes]
rs73749585	1.00[AMR][1000 genomes]
rs73749586	1.00[AMR][1000 genomes]
rs73749593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749595	0.83[AMR][1000 genomes]
rs73749596	0.83[AMR][1000 genomes]
rs73752121	0.83[AMR][1000 genomes]
rs73752126	1.00[AMR][1000 genomes]
rs73752131	1.00[AMR][1000 genomes]
rs73752132	1.00[AMR][1000 genomes]
rs73752133	1.00[AMR][1000 genomes]
rs73752135	1.00[AMR][1000 genomes]
rs73752138	1.00[AMR][1000 genomes]
rs73752139	1.00[AMR][1000 genomes]
rs73752140	1.00[AMR][1000 genomes]
rs7710316	0.83[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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14666400-14688200	Weak transcription	Ovary	ovary
2	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
3	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
4	chr5:14672000-14684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
6	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
8	chr5:14674600-14687200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:14674600-14688400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:14675800-14685400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:14676800-14683600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:14676800-14687800	Weak transcription	Fetal Kidney	kidney
15	chr5:14676800-14690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:14677000-14685800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:14677000-14688400	Weak transcription	Stomach Mucosa	stomach
19	chr5:14677000-14695200	Strong transcription	K562	blood
20	chr5:14677600-14689800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:14677600-14705600	Strong transcription	Dnd41	blood
22	chr5:14677800-14685600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:14677800-14685800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:14677800-14704000	Strong transcription	HepG2	liver
25	chr5:14678000-14683200	Strong transcription	Liver	Liver
26	chr5:14678000-14685200	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:14678000-14686000	Strong transcription	Primary T cells from cord blood	blood
28	chr5:14678000-14689800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:14678000-14690200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:14678000-14690200	Strong transcription	Primary B cells from cord blood	blood
31	chr5:14678200-14683400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:14678200-14683400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:14678200-14685000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:14678200-14685200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:14678200-14685200	Strong transcription	Osteobl	bone
36	chr5:14678200-14685800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:14678200-14685800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:14678200-14689200	Strong transcription	Fetal Intestine Small	intestine
39	chr5:14678200-14690400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:14678200-14690400	Strong transcription	Fetal Stomach	stomach
41	chr5:14678400-14683400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:14678400-14684000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:14678400-14684400	Weak transcription	Aorta	Aorta
44	chr5:14678400-14685400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:14678400-14685800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:14678600-14683600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:14678600-14684600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:14678600-14685200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:14678600-14685600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:14678600-14685800	Strong transcription	Primary T cells fromperipheralblood	blood

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