Variant report

Variant	rs12311248
Chromosome Location	chr12:103889408-103889409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11111614	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11111615	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11111616	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12315258	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034027	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2374073	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138836	0.90[EUR][1000 genomes]
rs73389785	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	esv3449843	chr12:103888522-103890420	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103888200-103889600	Active TSS	Thymus	Thymus
2	chr12:103888400-103889800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:103888400-103890000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:103888400-103890200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:103888400-103890200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:103888400-103890200	Active TSS	Brain Angular Gyrus	brain
7	chr12:103888600-103889600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:103888600-103889600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:103888600-103890000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:103888600-103890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:103888800-103889600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr12:103888800-103889600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:103888800-103889600	Active TSS	Brain Substantia Nigra	brain
14	chr12:103888800-103889800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:103888800-103889800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:103888800-103889800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:103888800-103889800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:103888800-103889800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr12:103888800-103890000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:103888800-103890000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:103888800-103890000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:103888800-103890000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:103888800-103890000	Enhancers	Pancreas	Pancrea
24	chr12:103889000-103889600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:103889000-103889600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:103889000-103889600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:103889000-103889600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:103889000-103889600	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:103889000-103889600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:103889000-103889600	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:103889000-103889600	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:103889000-103889600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:103889000-103889600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:103889000-103889600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:103889000-103889600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:103889000-103889600	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr12:103889000-103889600	Active TSS	Fetal Thymus	thymus
38	chr12:103889000-103889600	Active TSS	Right Ventricle	heart
39	chr12:103889000-103889600	Active TSS	Dnd41	blood
40	chr12:103889000-103889600	Active TSS	GM12878-XiMat	blood
41	chr12:103889000-103889800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:103889000-103889800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:103889000-103889800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:103889000-103890000	Active TSS	Primary T cells from cord blood	blood
45	chr12:103889000-103890000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr12:103889000-103890200	Active TSS	Brain Anterior Caudate	brain
47	chr12:103889000-103890200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:103889000-103890200	Active TSS	Fetal Brain Female	brain
49	chr12:103889000-103890200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:103889200-103889600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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