Variant report

Variant	rs16986909
Chromosome Location	chr22:29373806-29373807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132541	0.85[CHB][hapmap]
rs132550	0.82[CHB][hapmap]
rs132551	0.85[CHB][hapmap]
rs132554	0.82[CHB][hapmap]
rs132556	0.82[CHB][hapmap]
rs2294241	1.00[EUR][1000 genomes]
rs2301429	1.00[EUR][1000 genomes]
rs5762916	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs5762924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5762935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5997427	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs713892	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs7290117	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs739197	0.85[CHB][hapmap]
rs8139717	0.93[ASN][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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29374400	Weak transcription	Lung	lung
3	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:29369400-29374400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:29371800-29374400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr22:29371800-29374400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:29371800-29374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:29371800-29375000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:29371800-29375600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29371800-29375800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr22:29371800-29375800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29371800-29376000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29372000-29374400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr22:29372000-29374600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr22:29372000-29374600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr22:29372000-29375200	Enhancers	Brain Substantia Nigra	brain
19	chr22:29372200-29374400	Enhancers	Fetal Kidney	kidney
20	chr22:29372200-29374600	Enhancers	Stomach Mucosa	stomach
21	chr22:29372200-29375600	Enhancers	Left Ventricle	heart
22	chr22:29372200-29375800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29372400-29374000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:29372400-29374200	Flanking Active TSS	HUVEC	blood vessel
25	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:29372600-29375800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:29372600-29376200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:29372600-29376200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:29372800-29374000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29372800-29374400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:29372800-29374400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr22:29372800-29374400	Enhancers	Fetal Lung	lung
33	chr22:29372800-29374600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:29372800-29374600	Flanking Active TSS	HSMM	muscle
35	chr22:29372800-29374600	Flanking Active TSS	HSMMtube	muscle
36	chr22:29372800-29374600	Flanking Active TSS	NH-A	brain
37	chr22:29372800-29374600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr22:29373000-29374200	Flanking Active TSS	HMEC	breast
39	chr22:29373000-29374400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:29373000-29374400	Enhancers	Fetal Intestine Small	intestine
41	chr22:29373000-29374400	Flanking Active TSS	HepG2	liver
42	chr22:29373000-29374400	Flanking Active TSS	Osteobl	bone
43	chr22:29373000-29374600	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:29373000-29375800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:29373000-29376600	Enhancers	K562	blood
46	chr22:29373200-29374000	Enhancers	Right Ventricle	heart
47	chr22:29373200-29374200	Enhancers	Duodenum Mucosa	Duodenum
48	chr22:29373200-29374200	Weak transcription	Esophagus	oesophagus
49	chr22:29373200-29374200	Flanking Active TSS	Fetal Heart	heart
50	chr22:29373200-29374400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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