Variant report

Variant	rs16873452
Chromosome Location	chr5:43664621-43664622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16873474	0.86[AFR][1000 genomes]
rs16873475	0.86[AFR][1000 genomes]
rs34571724	0.87[AFR][1000 genomes]
rs35606071	0.82[AFR][1000 genomes]
rs35663171	0.87[AFR][1000 genomes]
rs6893689	0.91[AFR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:43639200-43665400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:43640000-43665400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:43643600-43665200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:43650400-43665800	Weak transcription	Colonic Mucosa	Colon
10	chr5:43650600-43673000	Weak transcription	Right Ventricle	heart
11	chr5:43650800-43673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:43650800-43676200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:43651000-43665800	Weak transcription	Placenta	Placenta
14	chr5:43651400-43665000	Weak transcription	NH-A	brain
15	chr5:43651800-43666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:43652200-43666000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:43652400-43665600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:43653000-43675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:43653400-43665800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:43653400-43674200	Weak transcription	HSMMtube	muscle
21	chr5:43657000-43668400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:43657000-43674400	Weak transcription	Pancreas	Pancrea
23	chr5:43657400-43664800	Weak transcription	NHLF	lung
24	chr5:43657600-43664800	Weak transcription	Fetal Heart	heart
25	chr5:43657600-43676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:43657600-43695200	Weak transcription	K562	blood
27	chr5:43658600-43665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:43659400-43696800	Weak transcription	Gastric	stomach
29	chr5:43659600-43675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
32	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
33	chr5:43659600-43710000	Weak transcription	Ovary	ovary
34	chr5:43659800-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:43659800-43665800	Weak transcription	Fetal Intestine Small	intestine
36	chr5:43660000-43665800	Weak transcription	Brain Germinal Matrix	brain
37	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:43660800-43666400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:43661000-43665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:43661000-43665800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:43661000-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:43661000-43665800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:43661000-43665800	Weak transcription	Fetal Intestine Large	intestine
45	chr5:43661000-43665800	Weak transcription	Fetal Stomach	stomach
46	chr5:43661000-43665800	Weak transcription	Lung	lung
47	chr5:43661000-43665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:43661000-43665800	Weak transcription	Thymus	Thymus
49	chr5:43661000-43665800	Weak transcription	Spleen	Spleen
50	chr5:43661000-43666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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