Variant report

Variant	rs10849147
Chromosome Location	chr12:4932107-4932108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10492059	0.89[AFR][1000 genomes]
rs10849145	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10849146	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849149	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849153	1.00[JPT][hapmap]
rs11063351	1.00[ASN][1000 genomes]
rs11063358	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11063359	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12099448	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12366826	0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs17702562	0.81[EUR][1000 genomes]
rs61907137	1.00[ASN][1000 genomes]
rs61907139	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61907144	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61908768	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489569	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489570	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489571	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489572	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489573	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489576	1.00[JPT][hapmap]
rs7296238	1.00[ASN][1000 genomes]
rs7297694	1.00[ASN][1000 genomes]
rs7310191	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7311419	1.00[ASN][1000 genomes]
rs7313593	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7963542	0.95[AMR][1000 genomes];0.96[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	nsv520570	chr12:4929787-4954591	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1047238	chr12:4929787-4955435	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10849147	TSPAN9	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4925600-4934600	Enhancers	Primary B cells from cord blood	blood
2	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
3	chr12:4927400-4934400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:4927400-4935400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4927800-4933200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:4927800-4933200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:4927800-4938800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:4928000-4935800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:4928200-4932400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:4928200-4933400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:4928400-4933200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:4929000-4934800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:4929200-4933200	Weak transcription	Thymus	Thymus
15	chr12:4929200-4934000	Weak transcription	Primary T cells from cord blood	blood
16	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:4929400-4933200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:4929400-4934000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:4929400-4937800	Weak transcription	Fetal Brain Female	brain
20	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:4929800-4933800	Weak transcription	Fetal Thymus	thymus
22	chr12:4930400-4934200	Weak transcription	GM12878-XiMat	blood
23	chr12:4930400-4935600	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:4930600-4934800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:4930600-4938800	Weak transcription	Fetal Stomach	stomach
26	chr12:4930800-4933000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
28	chr12:4931000-4937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:4931400-4933200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:4931600-4932200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr12:4932000-4933000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:4932000-4933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:4932000-4933200	Weak transcription	Primary hematopoietic stem cells	blood

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