Variant report

Variant	rs12465320
Chromosome Location	chr2:153226861-153226862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12468749	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12471256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12622247	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12986786	0.84[AMR][1000 genomes]
rs36012952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4293523	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4544376	0.86[ASN][1000 genomes]
rs4664575	0.84[AMR][1000 genomes]
rs61079826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:153214800-153227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
7	chr2:153221800-153229600	Enhancers	HepG2	liver
8	chr2:153222600-153230600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:153223200-153229600	Enhancers	Ovary	ovary
10	chr2:153223400-153227400	Weak transcription	Lung	lung
11	chr2:153223400-153227600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153223400-153227600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:153223400-153237000	Weak transcription	Right Atrium	heart
14	chr2:153223800-153227600	Enhancers	Brain Anterior Caudate	brain
15	chr2:153224000-153227800	Enhancers	NHDF-Ad	bronchial
16	chr2:153224200-153228000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:153224200-153234600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:153224600-153228800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:153224600-153233000	Weak transcription	Pancreas	Pancrea
20	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
21	chr2:153225200-153227000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:153225400-153227000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:153225400-153227800	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:153225400-153232200	Enhancers	Brain Substantia Nigra	brain
25	chr2:153225600-153227600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:153225600-153229600	Enhancers	Placenta	Placenta
27	chr2:153225800-153227000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:153225800-153228600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:153225800-153232200	Enhancers	Psoas Muscle	Psoas
30	chr2:153226200-153227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:153226200-153227400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153226200-153227600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:153226200-153233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:153226200-153233200	Weak transcription	Hela-S3	cervix
35	chr2:153226200-153237000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:153226200-153237000	Weak transcription	Aorta	Aorta
37	chr2:153226200-153237000	Weak transcription	Left Ventricle	heart
38	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
39	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
40	chr2:153226400-153227000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:153226400-153227400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:153226400-153227600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:153226400-153228400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:153226400-153231400	Weak transcription	NHEK	skin
45	chr2:153226400-153232600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:153226400-153232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:153226600-153227000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:153226600-153228000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:153226600-153228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153226600-153228800	Weak transcription	Fetal Kidney	kidney

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