Variant report

Variant	rs132546
Chromosome Location	chr22:29315785-29315786
allele	A/G
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:9)

rs_ID	r²[population]
rs132530	0.86[ASN][1000 genomes]
rs132535	0.90[ASN][1000 genomes]
rs132541	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132547	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132550	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132551	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132554	0.89[EUR][1000 genomes]
rs132556	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469988	0.88[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29311600-29316000	Enhancers	Fetal Lung	lung
2	chr22:29312000-29315800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:29312200-29315800	Enhancers	Fetal Muscle Leg	muscle
4	chr22:29312200-29316000	Enhancers	Placenta	Placenta
5	chr22:29312600-29316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:29313000-29315800	Enhancers	Fetal Muscle Trunk	muscle
7	chr22:29313200-29318600	Weak transcription	Spleen	Spleen
8	chr22:29314200-29318600	Weak transcription	Colonic Mucosa	Colon
9	chr22:29314200-29319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:29314400-29318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:29314400-29318800	Weak transcription	HMEC	breast
12	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
13	chr22:29314600-29316600	Enhancers	HepG2	liver
14	chr22:29314600-29316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:29314600-29316800	Weak transcription	A549	lung
16	chr22:29314600-29317200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:29314600-29317400	Weak transcription	NHEK	skin
18	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29314800-29316000	Weak transcription	Liver	Liver
20	chr22:29314800-29316600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:29314800-29316800	Weak transcription	Esophagus	oesophagus
22	chr22:29314800-29319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:29314800-29319800	Weak transcription	NH-A	brain
24	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:29315000-29316400	Weak transcription	Pancreas	Pancrea
26	chr22:29315000-29316600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr22:29315000-29316800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:29315000-29316800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:29315000-29316800	Weak transcription	Lung	lung
30	chr22:29315000-29317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:29315000-29317600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:29315000-29317600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:29315000-29318600	Weak transcription	Aorta	Aorta
34	chr22:29315000-29318600	Weak transcription	Right Ventricle	heart
35	chr22:29315000-29319800	Weak transcription	Psoas Muscle	Psoas
36	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:29315200-29316600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:29315200-29316600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:29315200-29316800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:29315200-29316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:29315200-29316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:29315200-29316800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:29315200-29316800	Weak transcription	Fetal Brain Female	brain
45	chr22:29315200-29316800	Weak transcription	Fetal Intestine Large	intestine
46	chr22:29315200-29317200	Weak transcription	Brain Germinal Matrix	brain
47	chr22:29315200-29317200	Weak transcription	Stomach Mucosa	stomach
48	chr22:29315200-29317400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:29315200-29318600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:29315200-29318600	Weak transcription	Right Atrium	heart

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