Variant report

Variant	rs10505975
Chromosome Location	chr12:25476219-25476220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10842533	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11047951	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12300542	0.91[ASN][1000 genomes]
rs3885679	0.84[EUR][1000 genomes]
rs4963606	0.91[ASN][1000 genomes]
rs4963607	0.91[ASN][1000 genomes]
rs4963871	0.96[GIH][hapmap]
rs6487472	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74070448	0.99[ASN][1000 genomes]
rs7953994	0.86[AMR][1000 genomes]
rs7967245	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898928	chr12:25458354-25499342	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10505975	ST8SIA1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25472600-25477000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:25473800-25478600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:25474600-25476600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:25474600-25477400	Enhancers	Fetal Thymus	thymus
5	chr12:25474800-25477600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:25475000-25476600	Weak transcription	Fetal Heart	heart
7	chr12:25475200-25476800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:25475200-25476800	Enhancers	HUVEC	blood vessel
9	chr12:25475400-25477000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr12:25475400-25477000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:25475400-25477000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:25475400-25477400	Enhancers	Thymus	Thymus
13	chr12:25475400-25477400	Enhancers	NH-A	brain
14	chr12:25475600-25476800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:25475600-25477000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:25475600-25477000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:25475600-25477000	Enhancers	Osteobl	bone
18	chr12:25475600-25477400	Enhancers	Fetal Lung	lung
19	chr12:25475600-25478000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:25475800-25476800	Enhancers	GM12878-XiMat	blood
21	chr12:25475800-25477000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:25475800-25477400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:25475800-25486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:25476000-25476600	Enhancers	Primary T cells from cord blood	blood
25	chr12:25476000-25477000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:25476000-25477000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:25476000-25477200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:25476000-25477400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:25476000-25477400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:25476000-25477400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:25476000-25477400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:25476000-25477600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:25476000-25485600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:25476200-25476600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:25476200-25481000	Weak transcription	Hela-S3	cervix

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