Variant report

Variant	rs73328487
Chromosome Location	chr12:67865454-67865455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17103864	0.83[EUR][1000 genomes]
rs17103875	1.00[EUR][1000 genomes]
rs73326501	0.83[EUR][1000 genomes]
rs73328481	1.00[EUR][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	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67862800-67866800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr12:67862800-67868400	Enhancers	Fetal Heart	heart
3	chr12:67863200-67868600	Weak transcription	HSMM	muscle
4	chr12:67863600-67865600	Weak transcription	Right Atrium	heart
5	chr12:67863800-67865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67863800-67865600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:67863800-67866400	Weak transcription	Fetal Stomach	stomach
8	chr12:67863800-67866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:67863800-67867600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:67863800-67867800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:67863800-67870400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:67864000-67865600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:67864200-67865600	Weak transcription	Fetal Lung	lung
14	chr12:67864200-67865800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:67864200-67871600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:67864400-67866400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:67864400-67867200	Enhancers	Fetal Brain Male	brain
18	chr12:67864400-67867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:67864400-67868200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:67864400-67870200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:67864600-67867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:67864600-67867400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:67864600-67867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:67864600-67868000	Weak transcription	Primary T cells from cord blood	blood
25	chr12:67864800-67865600	Weak transcription	Fetal Thymus	thymus
26	chr12:67864800-67870200	Weak transcription	Right Ventricle	heart
27	chr12:67865000-67866800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:67865200-67865800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:67865200-67866800	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:67865200-67867000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:67865200-67868400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:67865400-67865800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:67865400-67865800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:67865400-67865800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:67865400-67865800	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:67865400-67865800	Enhancers	Lung	lung
37	chr12:67865400-67866200	Enhancers	Left Ventricle	heart
38	chr12:67865400-67866200	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:67865400-67866400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:67865400-67866800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:67865400-67866800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:67865400-67866800	Enhancers	Adipose Nuclei	Adipose
43	chr12:67865400-67866800	Enhancers	Brain Angular Gyrus	brain
44	chr12:67865400-67866800	Enhancers	Fetal Muscle Leg	muscle
45	chr12:67865400-67866800	Enhancers	Ovary	ovary
46	chr12:67865400-67866800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:67865400-67867000	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:67865400-67867200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:67865400-67867200	Enhancers	Fetal Brain Female	brain

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