Variant report

Variant	rs132547
Chromosome Location	chr22:29315834-29315835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs132530	1.00[JPT][hapmap]
rs132535	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs132539	0.87[ASW][hapmap]
rs132541	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs132546	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132550	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132551	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132554	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132556	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469988	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5752844	0.80[ASN][1000 genomes]
rs5762916	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5762924	0.87[CEU][hapmap];0.82[MEX][hapmap]
rs5762935	0.87[CEU][hapmap]
rs713892	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs739197	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29311600-29316000	Enhancers	Fetal Lung	lung
2	chr22:29312200-29316000	Enhancers	Placenta	Placenta
3	chr22:29312600-29316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:29313200-29318600	Weak transcription	Spleen	Spleen
5	chr22:29314200-29318600	Weak transcription	Colonic Mucosa	Colon
6	chr22:29314200-29319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:29314400-29318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:29314400-29318800	Weak transcription	HMEC	breast
9	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
10	chr22:29314600-29316600	Enhancers	HepG2	liver
11	chr22:29314600-29316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29314600-29316800	Weak transcription	A549	lung
13	chr22:29314600-29317200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29314600-29317400	Weak transcription	NHEK	skin
15	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29314800-29316000	Weak transcription	Liver	Liver
17	chr22:29314800-29316600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:29314800-29316800	Weak transcription	Esophagus	oesophagus
19	chr22:29314800-29319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:29314800-29319800	Weak transcription	NH-A	brain
21	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:29315000-29316400	Weak transcription	Pancreas	Pancrea
23	chr22:29315000-29316600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29315000-29316800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr22:29315000-29316800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:29315000-29316800	Weak transcription	Lung	lung
27	chr22:29315000-29317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:29315000-29317600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:29315000-29317600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:29315000-29318600	Weak transcription	Aorta	Aorta
31	chr22:29315000-29318600	Weak transcription	Right Ventricle	heart
32	chr22:29315000-29319800	Weak transcription	Psoas Muscle	Psoas
33	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:29315200-29316600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:29315200-29316600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29315200-29316800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:29315200-29316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:29315200-29316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:29315200-29316800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:29315200-29316800	Weak transcription	Fetal Brain Female	brain
42	chr22:29315200-29316800	Weak transcription	Fetal Intestine Large	intestine
43	chr22:29315200-29317200	Weak transcription	Brain Germinal Matrix	brain
44	chr22:29315200-29317200	Weak transcription	Stomach Mucosa	stomach
45	chr22:29315200-29317400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:29315200-29318600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr22:29315200-29318600	Weak transcription	Right Atrium	heart
48	chr22:29315200-29318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:29315200-29318800	Weak transcription	Gastric	stomach
50	chr22:29315200-29319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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