Variant report

Variant	rs10748423
Chromosome Location	chr12:45783684-45783685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785572	0.83[EUR][1000 genomes]
rs10880774	0.81[EUR][1000 genomes]
rs10880776	0.81[EUR][1000 genomes]
rs12314896	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12821880	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1986426	0.84[ASN][1000 genomes]
rs2408315	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2408316	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2897868	0.83[EUR][1000 genomes]
rs36030426	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4469956	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768611	0.82[ASN][1000 genomes]
rs4768615	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6582545	0.83[EUR][1000 genomes]
rs7136295	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307697	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7958429	0.81[EUR][1000 genomes]
rs7967892	0.83[EUR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
5	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
9	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:45763400-45796000	Weak transcription	Osteobl	bone
12	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
18	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:45771200-45786600	Strong transcription	Dnd41	blood
20	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
21	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:45771400-45785400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:45772600-45785400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:45772600-45815400	Weak transcription	K562	blood
27	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
29	chr12:45774200-45786600	Strong transcription	Left Ventricle	heart
30	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
31	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:45775600-45784400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:45775600-45785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:45775800-45785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:45776200-45785600	Weak transcription	Colonic Mucosa	Colon
37	chr12:45776600-45785600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:45777000-45784400	Weak transcription	Psoas Muscle	Psoas
39	chr12:45777000-45786000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:45777800-45784000	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:45778000-45784200	Weak transcription	HUVEC	blood vessel
43	chr12:45778000-45785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:45778000-45795800	Weak transcription	NH-A	brain
45	chr12:45778200-45785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:45779400-45784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:45779400-45794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:45779800-45784200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:45780200-45783800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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