Variant report

Variant	rs1983269
Chromosome Location	chr12:122082413-122082414
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:18)

rs_ID	r²[population]
rs10770183	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840648	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840650	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043296	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043306	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11043308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043316	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11614109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304179	0.83[ASN][1000 genomes]
rs12305333	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12315280	0.83[ASN][1000 genomes]
rs12322922	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741595	0.88[AMR][1000 genomes]
rs4760125	0.88[AMR][1000 genomes]
rs7398511	0.88[AMR][1000 genomes]
rs7484839	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7485243	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7487117	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
5	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
6	chr12:122071400-122088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122071400-122090200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:122071400-122095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon
10	chr12:122071400-122096600	Weak transcription	Right Atrium	heart
11	chr12:122073000-122089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:122073000-122091200	Strong transcription	Fetal Intestine Small	intestine
13	chr12:122073200-122085600	Weak transcription	HSMMtube	muscle
14	chr12:122075400-122082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:122075600-122084800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:122076200-122091200	Strong transcription	Fetal Stomach	stomach
17	chr12:122076400-122090600	Weak transcription	NHEK	skin
18	chr12:122076800-122086400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:122076800-122087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:122077000-122084000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:122077200-122084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122077400-122085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:122077400-122096400	Weak transcription	Osteobl	bone
24	chr12:122078000-122082800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:122078800-122086400	Strong transcription	Primary T cells from cord blood	blood
26	chr12:122079200-122087200	Weak transcription	K562	blood
27	chr12:122079200-122093600	Weak transcription	Fetal Brain Female	brain
28	chr12:122079400-122083800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:122079400-122096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:122079600-122089400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:122079600-122096600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:122079800-122089400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:122079800-122091000	Weak transcription	Small Intestine	intestine
34	chr12:122080000-122084800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:122080000-122086400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122080000-122087200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:122080000-122089200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:122080000-122090600	Weak transcription	Esophagus	oesophagus
39	chr12:122080000-122090800	Weak transcription	Right Ventricle	heart
40	chr12:122080000-122092800	Weak transcription	NHLF	lung
41	chr12:122080000-122096600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122080000-122096600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:122080000-122096600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:122080000-122096600	Weak transcription	Fetal Intestine Large	intestine
45	chr12:122080000-122096600	Weak transcription	Gastric	stomach
46	chr12:122080200-122083400	Weak transcription	Adipose Nuclei	Adipose
47	chr12:122080200-122084200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:122080200-122086400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:122080200-122086800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:122080200-122088000	Weak transcription	Placenta	Placenta

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