Variant report

Variant	rs12214648
Chromosome Location	chr6:144814850-144814851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10457761	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12197654	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310077	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4584002	0.89[EUR][1000 genomes]
rs4896725	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6570634	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570635	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6912724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935011	0.89[EUR][1000 genomes]
rs6941929	0.89[EUR][1000 genomes]
rs9321976	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144764400-144838800	Weak transcription	A549	lung
2	chr6:144771400-144815800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:144788800-144821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:144789400-144822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:144792400-144815400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:144792400-144823800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr6:144792400-144824400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:144792400-144826000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr6:144792600-144815400	Strong transcription	Primary B cells from cord blood	blood
10	chr6:144795600-144822600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:144795800-144849800	Weak transcription	HMEC	breast
12	chr6:144797400-144822000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:144799800-144816000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:144800000-144829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:144800200-144815600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:144801200-144818200	Weak transcription	Fetal Heart	heart
17	chr6:144803200-144826800	Weak transcription	Fetal Brain Male	brain
18	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:144803800-144821800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:144804000-144815400	Strong transcription	Dnd41	blood
21	chr6:144804200-144815000	Strong transcription	HepG2	liver
22	chr6:144804200-144821400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:144804400-144815600	Strong transcription	Fetal Muscle Leg	muscle
24	chr6:144804600-144815800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:144804600-144816800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:144804600-144816800	Strong transcription	Left Ventricle	heart
27	chr6:144804800-144816800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:144805000-144821200	Strong transcription	Fetal Thymus	thymus
29	chr6:144805600-144817000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:144806200-144815600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:144806400-144815000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:144806400-144815400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:144806400-144815400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:144806400-144815400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:144806400-144815400	Strong transcription	Fetal Intestine Large	intestine
36	chr6:144806400-144815600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:144806600-144815000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:144806600-144815000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:144806600-144815200	Strong transcription	Primary T cells from cord blood	blood
40	chr6:144806600-144815400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr6:144806600-144815400	Strong transcription	Ovary	ovary
42	chr6:144806600-144815600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr6:144806600-144816800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:144807000-144815000	Strong transcription	Placenta	Placenta
45	chr6:144807200-144828800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:144807400-144820200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
48	chr6:144808400-144815400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:144808400-144816800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:144808400-144822600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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