Variant report

Variant	rs1531649
Chromosome Location	chr12:26358930-26358931
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
2	chr12:26351932..26353436-chr12:26357817..26360004,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12318480	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12423472	0.80[GIH][hapmap];0.81[TSI][hapmap]
rs12818979	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12822290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12827659	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12829316	1.00[ASN][1000 genomes]
rs1480037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17380788	1.00[ASN][1000 genomes]
rs34371272	1.00[ASN][1000 genomes]
rs34753809	1.00[ASN][1000 genomes]
rs4963970	1.00[ASN][1000 genomes]
rs57749967	0.89[ASN][1000 genomes]
rs57948457	0.89[ASN][1000 genomes]
rs58292015	1.00[ASN][1000 genomes]
rs58395664	0.82[AFR][1000 genomes]
rs58769131	0.89[ASN][1000 genomes]
rs59631457	1.00[ASN][1000 genomes]
rs61139398	0.89[ASN][1000 genomes]
rs71438624	0.82[ASN][1000 genomes]
rs73292989	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292998	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295005	0.84[AFR][1000 genomes]
rs765071	0.80[GIH][hapmap];0.81[TSI][hapmap]

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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1531649	SSPN	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26355400-26359200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:26356800-26359000	Enhancers	Fetal Heart	heart
4	chr12:26357000-26359200	Enhancers	Psoas Muscle	Psoas
5	chr12:26357200-26359000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:26357400-26359200	Enhancers	Left Ventricle	heart
7	chr12:26357400-26360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:26357600-26359600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:26357600-26359800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:26357800-26359400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:26357800-26365600	Weak transcription	Ovary	ovary
12	chr12:26358000-26359000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:26358200-26359200	Enhancers	Aorta	Aorta
14	chr12:26358200-26359600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:26358200-26365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:26358400-26359200	Enhancers	Right Ventricle	heart
17	chr12:26358400-26363600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:26358600-26359000	Enhancers	Brain Angular Gyrus	brain
19	chr12:26358600-26359800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:26358600-26359800	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:26358600-26360000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:26358800-26359000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr12:26358800-26359000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr12:26358800-26360000	Enhancers	Brain Hippocampus Middle	brain
27	chr12:26358800-26362600	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:26358800-26367000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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