Variant report

Variant	rs3768638
Chromosome Location	chr2:72369555-72369556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72368510..72373839-chr2:72374615..72379122,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000003137	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10166057	1.00[ASN][1000 genomes]
rs13407599	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2901091	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3768639	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768641	0.81[ASN][1000 genomes]
rs62150093	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62150094	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62150096	0.85[EUR][1000 genomes]
rs6546745	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546746	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546747	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546748	0.85[ASN][1000 genomes]
rs6710195	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6710373	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6738598	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6738942	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7596302	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309462	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72359400-72370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72360400-72370400	Weak transcription	Aorta	Aorta
3	chr2:72362600-72370000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:72364600-72370000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:72365000-72369600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:72365000-72370000	Weak transcription	Esophagus	oesophagus
7	chr2:72365400-72369800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:72365800-72370000	Weak transcription	Lung	lung
9	chr2:72365800-72370000	Weak transcription	Ovary	ovary
10	chr2:72366000-72370200	Weak transcription	Pancreas	Pancrea
11	chr2:72366200-72369800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:72366200-72370000	Weak transcription	Liver	Liver
13	chr2:72366200-72370000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:72366400-72370000	Weak transcription	Left Ventricle	heart
15	chr2:72366400-72370000	Weak transcription	Right Atrium	heart
16	chr2:72366400-72370000	Weak transcription	NHDF-Ad	bronchial
17	chr2:72366400-72370400	Weak transcription	Psoas Muscle	Psoas
18	chr2:72366600-72369800	Weak transcription	Colonic Mucosa	Colon
19	chr2:72366800-72369600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:72366800-72370000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:72366800-72370000	Weak transcription	Gastric	stomach
22	chr2:72366800-72370000	Weak transcription	Right Ventricle	heart
23	chr2:72367000-72369800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:72367400-72369600	Weak transcription	A549	lung
25	chr2:72368200-72370000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:72368200-72370000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:72368400-72369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:72368600-72369600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:72368600-72369800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr2:72368600-72370000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:72368800-72370000	Enhancers	Hela-S3	cervix
32	chr2:72369000-72371600	Bivalent Enhancer	Fetal Lung	lung
33	chr2:72369000-72377200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:72369400-72369600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:72369400-72369800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr2:72369400-72370000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr2:72369400-72370000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr2:72369400-72370000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:72369400-72370000	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:72369400-72370200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:72369400-72370200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:72369400-72370600	Bivalent Enhancer	Fetal Thymus	thymus
43	chr2:72369400-72371600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:72369400-72371600	Enhancers	Fetal Heart	heart

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