Variant report

Variant	rs74091013
Chromosome Location	chr12:50267437-50267438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
2	chr12:50236120..50238841-chr12:50266526..50269147,2	MCF-7	breast:
3	chr12:50266064..50268660-chr12:50284486..50286265,2	K562	blood:
4	chr12:50262939..50264614-chr12:50267218..50269332,2	K562	blood:

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2878705	0.81[EUR][1000 genomes]
rs408045	1.00[AMR][1000 genomes]
rs73293430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50260600-50267600	Enhancers	HSMM	muscle
2	chr12:50260600-50268200	Enhancers	HSMMtube	muscle
3	chr12:50260600-50268600	Enhancers	Fetal Muscle Leg	muscle
4	chr12:50261000-50268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50262000-50270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:50263600-50270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:50263800-50268000	Weak transcription	Gastric	stomach
8	chr12:50263800-50268400	Weak transcription	Esophagus	oesophagus
9	chr12:50263800-50271800	Weak transcription	Pancreas	Pancrea
10	chr12:50264000-50268800	Enhancers	Hela-S3	cervix
11	chr12:50264600-50271600	Weak transcription	Fetal Brain Male	brain
12	chr12:50264800-50269200	Enhancers	Brain Substantia Nigra	brain
13	chr12:50265200-50268000	Weak transcription	Right Ventricle	heart
14	chr12:50265200-50268200	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:50265200-50268400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:50265200-50269200	Enhancers	Brain Hippocampus Middle	brain
17	chr12:50265800-50268200	Genic enhancers	Brain Anterior Caudate	brain
18	chr12:50265800-50269200	Enhancers	Placenta	Placenta
19	chr12:50266000-50267600	Enhancers	Left Ventricle	heart
20	chr12:50266000-50268000	Enhancers	Adipose Nuclei	Adipose
21	chr12:50266000-50268400	Enhancers	Fetal Stomach	stomach
22	chr12:50266000-50268600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:50266200-50267800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:50266200-50268800	Enhancers	Fetal Lung	lung
25	chr12:50266200-50270000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50266200-50275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:50266600-50267800	Enhancers	Osteobl	bone
28	chr12:50266600-50268200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:50266600-50268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:50266800-50268400	Weak transcription	K562	blood
31	chr12:50266800-50269200	Genic enhancers	Brain Angular Gyrus	brain
32	chr12:50266800-50271400	Weak transcription	Fetal Brain Female	brain
33	chr12:50267000-50268000	Weak transcription	Lung	lung
34	chr12:50267000-50268200	Enhancers	Fetal Kidney	kidney
35	chr12:50267000-50268600	Enhancers	Brain Germinal Matrix	brain
36	chr12:50267000-50275800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
38	chr12:50267200-50267600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:50267200-50268000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:50267200-50268200	Weak transcription	Fetal Heart	heart
41	chr12:50267200-50268600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:50267400-50267600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:50267400-50267600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr12:50267400-50267600	Enhancers	Stomach Mucosa	stomach
45	chr12:50267400-50268400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:50267400-50268600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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