Variant report

Variant	rs74070448
Chromosome Location	chr12:25475908-25475909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10505975	0.99[ASN][1000 genomes]
rs10842533	0.93[ASN][1000 genomes]
rs11047951	0.93[ASN][1000 genomes]
rs11047967	0.85[EUR][1000 genomes]
rs12300542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4298992	0.85[EUR][1000 genomes]
rs4569091	0.88[EUR][1000 genomes]
rs4633542	0.88[EUR][1000 genomes]
rs4963606	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4963607	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4963608	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4963871	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6487472	0.93[ASN][1000 genomes]
rs7298675	0.85[EUR][1000 genomes]
rs7313316	0.88[EUR][1000 genomes]
rs7967245	0.93[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

No data

Chromatin state (count:37 , 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	chr12:25475200-25476000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:25475200-25476000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr12:25475200-25476800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:25475200-25476800	Enhancers	HUVEC	blood vessel
11	chr12:25475400-25476000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr12:25475400-25476000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:25475400-25476000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr12:25475400-25476000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:25475400-25476000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:25475400-25476200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:25475400-25477000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:25475400-25477000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:25475400-25477000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:25475400-25477400	Enhancers	Thymus	Thymus
21	chr12:25475400-25477400	Enhancers	NH-A	brain
22	chr12:25475600-25476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:25475600-25476000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:25475600-25476000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:25475600-25476000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:25475600-25476200	Enhancers	Hela-S3	cervix
27	chr12:25475600-25476200	Enhancers	HMEC	breast
28	chr12:25475600-25476800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:25475600-25477000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:25475600-25477000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:25475600-25477000	Enhancers	Osteobl	bone
32	chr12:25475600-25477400	Enhancers	Fetal Lung	lung
33	chr12:25475600-25478000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:25475800-25476800	Enhancers	GM12878-XiMat	blood
35	chr12:25475800-25477000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:25475800-25477400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:25475800-25486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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