Variant report

Variant	rs73395573
Chromosome Location	chr12:117358944-117358945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117353167..117354718-chr12:117357426..117359453,2	MCF-7	breast:
2	chr12:117347119..117350335-chr12:117358899..117361773,3	K562	blood:
3	chr12:117356337..117358081-chr12:117358101..117360193,2	K562	blood:

Variant related genes	Relation type
ENSG00000174989	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58661666	1.00[AMR][1000 genomes]
rs7294581	1.00[AMR][1000 genomes]
rs73395548	1.00[AMR][1000 genomes]
rs73395576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397440	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397442	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397475	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397493	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399498	1.00[AMR][1000 genomes]
rs73405269	1.00[AMR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
5	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
8	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:117350000-117360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:117350000-117363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
18	chr12:117350200-117359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:117350200-117362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
23	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
25	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
26	chr12:117351200-117363800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:117352400-117364200	Weak transcription	Fetal Stomach	stomach
28	chr12:117353800-117359400	Enhancers	Stomach Mucosa	stomach
29	chr12:117354400-117362400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:117354600-117362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:117354800-117359000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:117354800-117362400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:117354800-117362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:117354800-117363000	Weak transcription	Left Ventricle	heart
35	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
36	chr12:117355000-117359400	Weak transcription	NHDF-Ad	bronchial
37	chr12:117355000-117360600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:117355000-117362000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:117355000-117362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:117355000-117362000	Weak transcription	NH-A	brain
41	chr12:117355000-117362200	Weak transcription	HSMM	muscle
42	chr12:117355000-117362200	Weak transcription	NHLF	lung
43	chr12:117355000-117363000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:117355200-117360200	Weak transcription	Osteobl	bone
45	chr12:117355400-117360000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:117355400-117362400	Weak transcription	Hela-S3	cervix
47	chr12:117355400-117362400	Weak transcription	HSMMtube	muscle
48	chr12:117355600-117362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:117355600-117363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:117355600-117365400	Weak transcription	Lung	lung

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