Variant report

Variant	rs1179449
Chromosome Location	chr12:120799284-120799285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1076206	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179430	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1179433	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1179434	0.82[ASN][1000 genomes]
rs1179436	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1179437	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1179438	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1179440	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1179441	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1179442	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179443	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179445	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179446	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1179447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1183783	0.83[ASN][1000 genomes]
rs1184532	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1306624	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs206948	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs206949	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs206952	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2261612	0.87[EUR][1000 genomes]
rs2283367	0.96[ASN][1000 genomes]
rs2285679	0.95[ASN][1000 genomes]
rs2522131	0.87[EUR][1000 genomes]
rs2522133	0.88[EUR][1000 genomes]
rs2522134	0.89[EUR][1000 genomes]
rs2951690	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3782901	0.96[ASN][1000 genomes]
rs735382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7484571	0.81[ASN][1000 genomes]
rs757122	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs916842	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120784800-120800400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:120794600-120799800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:120794800-120799400	Weak transcription	Esophagus	oesophagus
6	chr12:120794800-120799800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:120794800-120800200	Weak transcription	Gastric	stomach
8	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:120796200-120800000	Weak transcription	Fetal Kidney	kidney
10	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120797400-120799600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:120797600-120799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:120798400-120801600	Enhancers	Fetal Brain Male	brain
14	chr12:120798800-120799400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:120798800-120799400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:120798800-120799400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr12:120798800-120799400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:120798800-120799400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:120798800-120799400	Flanking Active TSS	Fetal Brain Female	brain
20	chr12:120798800-120799400	Genic enhancers	Fetal Intestine Small	intestine
21	chr12:120798800-120799600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120798800-120799800	Enhancers	Fetal Lung	lung
23	chr12:120799000-120799400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:120799000-120799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:120799000-120799400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:120799000-120799400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:120799000-120799400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:120799000-120799400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120799000-120799400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:120799000-120799400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:120799000-120799400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:120799000-120799400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:120799000-120799400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:120799000-120799400	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:120799000-120799400	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:120799000-120799400	Enhancers	NH-A	brain
37	chr12:120799000-120799600	Enhancers	Placenta	Placenta
38	chr12:120799000-120799800	Active TSS	Osteobl	bone
39	chr12:120799000-120800000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr12:120799000-120800000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:120799000-120800000	Flanking Active TSS	Fetal Stomach	stomach
42	chr12:120799000-120800600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr12:120799000-120800600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:120799000-120800600	Enhancers	Fetal Heart	heart
45	chr12:120799000-120800800	Enhancers	Stomach Mucosa	stomach
46	chr12:120799000-120801200	Enhancers	Pancreas	Pancrea
47	chr12:120799200-120799400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:120799200-120799400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:120799200-120799400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr12:120799200-120799400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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