Variant report

Variant	rs13055470
Chromosome Location	chr22:29371761-29371762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483152	0.96[CEU][hapmap];0.81[GIH][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11704898	1.00[YRI][hapmap]
rs11704960	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484882	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17518058	1.00[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34293193	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762925	0.96[CEU][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs7290686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291953	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs8142788	1.00[ASW][hapmap]
rs9613782	1.00[YRI][hapmap]
rs997567	0.86[AFR][1000 genomes];0.89[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13055470	MN1	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:29349200-29371800	Weak transcription	HSMM	muscle
3	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
4	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
6	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
7	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
8	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:29361600-29373000	Weak transcription	Ovary	ovary
11	chr22:29365400-29372600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:29365600-29371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:29365600-29372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:29365800-29371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:29365800-29371800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:29365800-29371800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:29365800-29371800	Weak transcription	Psoas Muscle	Psoas
19	chr22:29365800-29371800	Weak transcription	NHEK	skin
20	chr22:29365800-29372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:29365800-29372200	Weak transcription	Stomach Mucosa	stomach
22	chr22:29365800-29372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:29365800-29372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:29365800-29373400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:29365800-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
27	chr22:29366000-29371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:29366000-29371800	Weak transcription	NH-A	brain
29	chr22:29366000-29372000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29366000-29372000	Weak transcription	Liver	Liver
31	chr22:29366000-29372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:29366000-29373000	Weak transcription	Esophagus	oesophagus
33	chr22:29366000-29373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:29366000-29374400	Weak transcription	Lung	lung
35	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:29366200-29371800	Weak transcription	Brain Anterior Caudate	brain
38	chr22:29366200-29372600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:29366200-29373000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:29366400-29371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:29367600-29371800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:29369400-29374400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:29369600-29371800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:29369600-29372000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:29369600-29372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr22:29370400-29371800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:29370600-29373000	Enhancers	HepG2	liver
49	chr22:29370800-29372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29371000-29372200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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