Variant report

Variant	rs16986857
Chromosome Location	chr22:29340293-29340294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16986762	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs16986965	0.80[YRI][hapmap]

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29331400-29341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29333800-29347800	Weak transcription	Gastric	stomach
6	chr22:29334400-29340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:29334600-29342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:29337000-29342000	Weak transcription	A549	lung
11	chr22:29337800-29340400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
13	chr22:29339400-29342800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:29339600-29342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:29339600-29342600	Weak transcription	Small Intestine	intestine
16	chr22:29339600-29345400	Weak transcription	Lung	lung
17	chr22:29339600-29345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:29339600-29346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29339600-29347600	Weak transcription	Pancreas	Pancrea
20	chr22:29339800-29340600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:29339800-29341400	Weak transcription	Fetal Intestine Small	intestine
22	chr22:29339800-29342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:29339800-29342600	Weak transcription	Fetal Intestine Large	intestine
24	chr22:29339800-29347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
26	chr22:29340000-29340400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29340000-29340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29340000-29342400	Weak transcription	HepG2	liver
29	chr22:29340000-29342800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:29340000-29342800	Weak transcription	Fetal Kidney	kidney
31	chr22:29340000-29345600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:29340000-29345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
34	chr22:29340200-29341800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:29340200-29342600	Weak transcription	Fetal Brain Male	brain

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