Variant report

Variant	rs16988387
Chromosome Location	chr22:30599451-30599452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73402647	0.83[AFR][1000 genomes]
rs73402653	0.83[AFR][1000 genomes]
rs73402667	0.80[AFR][1000 genomes]
rs9620939	1.00[MEX][hapmap]
rs9625903	0.86[YRI][hapmap]

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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
5	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
6	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:30593800-30600400	Weak transcription	Osteobl	bone
8	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
12	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:30597800-30599600	Enhancers	Fetal Lung	lung
14	chr22:30597800-30601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:30597800-30601200	Enhancers	HSMM	muscle
16	chr22:30597800-30601200	Enhancers	NHDF-Ad	bronchial
17	chr22:30597800-30602400	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:30598000-30599600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr22:30598200-30600000	Enhancers	Pancreas	Pancrea
20	chr22:30598200-30600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:30598200-30601800	Enhancers	Esophagus	oesophagus
22	chr22:30598400-30601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:30598600-30599800	Enhancers	Lung	lung
24	chr22:30598600-30601400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:30598600-30607000	Enhancers	Placenta	Placenta
26	chr22:30598800-30600000	Enhancers	Hela-S3	cervix
27	chr22:30598800-30600200	Weak transcription	NH-A	brain
28	chr22:30599000-30599600	Weak transcription	Fetal Kidney	kidney
29	chr22:30599000-30600000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:30599000-30600000	Weak transcription	A549	lung
31	chr22:30599000-30600400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:30599000-30600400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:30599000-30600400	Weak transcription	Ovary	ovary
34	chr22:30599000-30600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:30599000-30600600	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:30599000-30600800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:30599000-30601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:30599000-30601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:30599000-30601200	Enhancers	Fetal Muscle Leg	muscle
40	chr22:30599000-30601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:30599000-30602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:30599000-30605200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:30599200-30600200	Weak transcription	Fetal Thymus	thymus
44	chr22:30599200-30600200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr22:30599200-30600400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:30599200-30600400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:30599200-30600400	Weak transcription	Fetal Stomach	stomach
48	chr22:30599200-30600600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:30599200-30601600	Weak transcription	Fetal Intestine Large	intestine
50	chr22:30599200-30602800	Weak transcription	Placenta Amnion	Placenta Amnion

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