Variant report

Variant	rs1179448
Chromosome Location	chr12:120799082-120799083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1151840	1.00[AMR][1000 genomes]
rs1151844	1.00[AMR][1000 genomes]
rs1167357	1.00[AMR][1000 genomes]
rs1179452	1.00[AMR][1000 genomes]
rs1179453	1.00[AMR][1000 genomes]
rs13343210	1.00[AMR][1000 genomes]
rs1794737	1.00[AMR][1000 genomes]
rs1794739	1.00[AMR][1000 genomes]
rs2743850	1.00[AMR][1000 genomes]
rs499344	1.00[AMR][1000 genomes]
rs548087	1.00[AMR][1000 genomes]
rs548201	1.00[AMR][1000 genomes]
rs583686	1.00[AMR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
2	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120784800-120800400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:120789400-120799200	Weak transcription	Right Ventricle	heart
5	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:120794600-120799800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:120794800-120799200	Weak transcription	Left Ventricle	heart
8	chr12:120794800-120799400	Weak transcription	Esophagus	oesophagus
9	chr12:120794800-120799800	Weak transcription	Brain Substantia Nigra	brain
10	chr12:120794800-120800200	Weak transcription	Gastric	stomach
11	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:120796200-120800000	Weak transcription	Fetal Kidney	kidney
13	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:120796800-120799200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:120797400-120799600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:120797600-120799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:120798400-120801600	Enhancers	Fetal Brain Male	brain
18	chr12:120798600-120799200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr12:120798800-120799200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:120798800-120799200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:120798800-120799200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:120798800-120799400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120798800-120799400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:120798800-120799400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
25	chr12:120798800-120799400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:120798800-120799400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr12:120798800-120799400	Flanking Active TSS	Fetal Brain Female	brain
28	chr12:120798800-120799400	Genic enhancers	Fetal Intestine Small	intestine
29	chr12:120798800-120799600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:120798800-120799800	Enhancers	Fetal Lung	lung
31	chr12:120799000-120799200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:120799000-120799200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:120799000-120799200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:120799000-120799200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120799000-120799200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
36	chr12:120799000-120799200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:120799000-120799200	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr12:120799000-120799200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:120799000-120799200	Enhancers	Brain Hippocampus Middle	brain
40	chr12:120799000-120799200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:120799000-120799200	Enhancers	Fetal Intestine Large	intestine
42	chr12:120799000-120799200	Enhancers	Fetal Muscle Trunk	muscle
43	chr12:120799000-120799200	Enhancers	Fetal Muscle Leg	muscle
44	chr12:120799000-120799200	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:120799000-120799400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:120799000-120799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:120799000-120799400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:120799000-120799400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:120799000-120799400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:120799000-120799400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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