Variant report

Variant	rs9214
Chromosome Location	chr12:26385786-26385787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26377327..26379490-chr12:26385777..26389319,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10842693	0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12422262	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12423472	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs12424240	0.86[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs12424263	0.82[ASN][1000 genomes]
rs1480039	0.81[CHB][hapmap]
rs2291140	0.86[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36034234	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4963653	0.94[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963655	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4963656	0.89[CEU][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963972	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4963973	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59085537	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61914487	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73090874	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7470	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs765071	0.81[CEU][hapmap];0.81[CHB][hapmap];0.97[ASN][1000 genomes]
rs9850	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9214	SSPN	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
2	chr12:26380000-26393400	Weak transcription	Esophagus	oesophagus
3	chr12:26380000-26393400	Weak transcription	Left Ventricle	heart
4	chr12:26380200-26391200	Weak transcription	HSMM	muscle
5	chr12:26380200-26391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:26380200-26391800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:26380200-26391800	Weak transcription	Right Ventricle	heart
8	chr12:26380200-26392000	Weak transcription	Aorta	Aorta
9	chr12:26380400-26391800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:26380400-26392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:26380600-26386600	Weak transcription	Fetal Stomach	stomach
12	chr12:26380600-26391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:26380800-26386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:26380800-26391200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:26380800-26391800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:26381000-26386400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:26383400-26387200	Weak transcription	Fetal Intestine Small	intestine
18	chr12:26383800-26391400	Weak transcription	NHDF-Ad	bronchial
19	chr12:26384600-26386400	Weak transcription	Ovary	ovary
20	chr12:26384600-26386600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:26384800-26386600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:26385400-26386400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:26385400-26386400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:26385400-26386400	Weak transcription	Fetal Lung	lung

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