Variant report

Variant	rs73929911
Chromosome Location	chr2:47492420-47492421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47441816..47444642-chr2:47491530..47494006,2	MCF-7	breast:
2	chr2:47426556..47429113-chr2:47489647..47493366,3	MCF-7	breast:
3	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
4	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
5	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
6	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
7	chr2:47478076..47480290-chr2:47491113..47492985,2	K562	blood:
8	chr2:47467180..47468819-chr2:47490590..47493226,2	MCF-7	breast:
9	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
10	chr2:47490578..47492989-chr2:47496160..47499559,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55884002	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57384282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58297888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58913423	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60451392	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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
2	chr2:47490400-47499200	Enhancers	Fetal Intestine Small	intestine
3	chr2:47491200-47492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47491200-47493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:47491200-47493400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:47491200-47493400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:47491200-47493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:47491200-47493600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:47491200-47493800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:47491200-47494400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:47491200-47494400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:47491200-47495000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:47491200-47499400	Enhancers	Fetal Intestine Large	intestine
14	chr2:47491400-47492800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:47491400-47493000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:47491400-47493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:47491400-47493400	Enhancers	Liver	Liver
18	chr2:47491400-47494200	Enhancers	A549	lung
19	chr2:47491400-47494800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:47491600-47492800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:47491600-47493200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:47491600-47493400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:47491600-47493400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:47491600-47494000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:47491600-47494000	Enhancers	Stomach Mucosa	stomach
26	chr2:47491600-47494800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:47491600-47496400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:47491800-47492600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:47491800-47492600	Weak transcription	Colonic Mucosa	Colon
30	chr2:47491800-47492800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:47491800-47492800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:47491800-47496600	Weak transcription	Brain Substantia Nigra	brain
33	chr2:47492000-47493400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:47492000-47496400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:47492000-47498800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:47492200-47492600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:47492200-47492800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:47492200-47492800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:47492200-47492800	Flanking Active TSS	HepG2	liver
40	chr2:47492200-47493200	Enhancers	Fetal Brain Female	brain
41	chr2:47492200-47494000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:47492200-47494000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:47492400-47493000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:47492400-47493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:47492400-47493200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr2:47492400-47493400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:47492400-47493600	Enhancers	Fetal Brain Male	brain
48	chr2:47492400-47494400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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