Variant report

Variant	rs12318489
Chromosome Location	chr12:45781652-45781653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11182985	1.00[EUR][1000 genomes]
rs11183020	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12298823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299652	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12303119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12318053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs9804810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804811	1.00[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	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
6	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
10	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:45763400-45796000	Weak transcription	Osteobl	bone
13	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
20	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:45771200-45786600	Strong transcription	Dnd41	blood
22	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
23	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:45771400-45785400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:45771800-45782200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:45772200-45782400	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:45772200-45782600	Strong transcription	Primary T cells from cord blood	blood
30	chr12:45772600-45785400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:45772600-45815400	Weak transcription	K562	blood
32	chr12:45773200-45782200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
35	chr12:45774200-45786600	Strong transcription	Left Ventricle	heart
36	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
37	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:45775200-45782800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:45775600-45783600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:45775600-45784400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:45775600-45785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:45775800-45785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:45776200-45785600	Weak transcription	Colonic Mucosa	Colon
45	chr12:45776600-45785600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:45776800-45783600	Strong transcription	HepG2	liver
47	chr12:45777000-45784400	Weak transcription	Psoas Muscle	Psoas
48	chr12:45777000-45786000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:45777800-45782600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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