Variant report

Variant	rs12300327
Chromosome Location	chr12:122073818-122073819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122072717..122074478-chr12:122079333..122082126,2	K562	blood:

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

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

rs_ID	r²[population]
rs10770190	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1113409	0.81[EUR][1000 genomes]
rs11502393	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11610515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12308869	0.81[EUR][1000 genomes]
rs12313273	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12319775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35989686	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3741595	0.85[AMR][1000 genomes]
rs4760125	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59988934	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486776	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6486787	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486795	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313601	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73227920	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7398511	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
3	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:122068200-122078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:122069400-122074200	Weak transcription	Dnd41	blood
8	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
9	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
10	chr12:122070600-122074600	Weak transcription	Thymus	Thymus
11	chr12:122070800-122081000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:122071000-122074000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:122071000-122074800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:122071000-122075000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:122071200-122075200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:122071200-122075200	Weak transcription	A549	lung
17	chr12:122071200-122078000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:122071200-122078800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122071200-122078800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:122071200-122078800	Weak transcription	Ovary	ovary
21	chr12:122071200-122078800	Weak transcription	NHLF	lung
22	chr12:122071200-122079200	Weak transcription	HUVEC	blood vessel
23	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
24	chr12:122071400-122074400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:122071400-122074400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:122071400-122074600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:122071400-122074800	Weak transcription	Placenta	Placenta
28	chr12:122071400-122075000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:122071400-122075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122071400-122075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:122071400-122075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:122071400-122075200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122071400-122075200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:122071400-122075200	Weak transcription	Pancreas	Pancrea
35	chr12:122071400-122075400	Weak transcription	Gastric	stomach
36	chr12:122071400-122076400	Weak transcription	HepG2	liver
37	chr12:122071400-122078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:122071400-122078800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:122071400-122079000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:122071400-122079000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:122071400-122079000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:122071400-122079000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:122071400-122079000	Weak transcription	Small Intestine	intestine
44	chr12:122071400-122079400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:122071400-122079400	Weak transcription	Fetal Lung	lung
46	chr12:122071400-122081200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:122071400-122088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122071400-122090200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:122071400-122095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon

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