Variant report

Variant	rs16869172
Chromosome Location	chr5:16848738-16848739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16848554..16850179-chr5:16855617..16858396,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60507141	1.00[AMR][1000 genomes]
rs60716563	1.00[AMR][1000 genomes]
rs6865207	1.00[AMR][1000 genomes]
rs6870170	1.00[AMR][1000 genomes]
rs6871895	1.00[AMR][1000 genomes]
rs747058	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv1026773	chr5:16846836-16877367	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16820800-16855200	Weak transcription	HSMM	muscle
2	chr5:16828000-16852400	Weak transcription	NHDF-Ad	bronchial
3	chr5:16829400-16855800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:16832400-16855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:16834800-16853400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:16838200-16853600	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:16839000-16853000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16839000-16855800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:16839000-16864600	Weak transcription	Fetal Brain Female	brain
10	chr5:16839200-16849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:16841800-16852400	Weak transcription	Fetal Stomach	stomach
12	chr5:16841800-16855600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:16842400-16849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:16842400-16862800	Weak transcription	Stomach Mucosa	stomach
15	chr5:16842600-16855200	Weak transcription	HUVEC	blood vessel
16	chr5:16842600-16855600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:16842800-16849200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:16843400-16855000	Weak transcription	Lung	lung
19	chr5:16843600-16852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:16843600-16853600	Weak transcription	HSMMtube	muscle
21	chr5:16844400-16855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:16844800-16855600	Weak transcription	NHEK	skin
23	chr5:16845000-16849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:16845600-16857000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:16846200-16852600	Weak transcription	Fetal Lung	lung
26	chr5:16846400-16852800	Weak transcription	Small Intestine	intestine
27	chr5:16846600-16852600	Weak transcription	NH-A	brain
28	chr5:16846800-16852600	Weak transcription	Osteobl	bone
29	chr5:16846800-16855600	Weak transcription	Gastric	stomach
30	chr5:16846800-16856200	Weak transcription	HMEC	breast
31	chr5:16847000-16852200	Weak transcription	Fetal Kidney	kidney
32	chr5:16847000-16855000	Weak transcription	Pancreas	Pancrea
33	chr5:16847000-16855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:16847200-16848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:16847600-16849200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:16847800-16856000	Weak transcription	Fetal Thymus	thymus
37	chr5:16848600-16848800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:16848600-16850200	Enhancers	A549	lung
39	chr5:16848600-16850400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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