Variant report

Variant	rs3768643
Chromosome Location	chr2:72361699-72361700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12478279	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2420201	0.90[AMR][1000 genomes]
rs6721986	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72353000-72363200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:72353600-72364600	Weak transcription	Right Atrium	heart
3	chr2:72354200-72364600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:72355000-72362000	Enhancers	Fetal Thymus	thymus
5	chr2:72356200-72363000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:72356200-72363200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:72356400-72365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:72357000-72362600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:72357600-72362800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:72357800-72365200	Weak transcription	Gastric	stomach
11	chr2:72358200-72362000	Weak transcription	Fetal Lung	lung
12	chr2:72358200-72363000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:72358800-72362400	Strong transcription	Adipose Nuclei	Adipose
14	chr2:72358800-72364600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:72358800-72364800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:72359000-72363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:72359000-72363200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:72359000-72364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:72359200-72362800	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:72359200-72363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:72359400-72362400	Strong transcription	Right Ventricle	heart
22	chr2:72359400-72364600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:72359400-72370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:72360200-72364200	Weak transcription	Hela-S3	cervix
25	chr2:72360400-72364800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:72360400-72370400	Weak transcription	Aorta	Aorta
27	chr2:72360600-72364800	Weak transcription	Spleen	Spleen
28	chr2:72360800-72362600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr2:72360800-72364600	Weak transcription	Esophagus	oesophagus
30	chr2:72360800-72364600	Weak transcription	Fetal Intestine Large	intestine
31	chr2:72360800-72364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:72361200-72362000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:72361200-72363800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:72361200-72363800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:72361600-72362000	Strong transcription	A549	lung
36	chr2:72361600-72362200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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