Variant report

Variant	rs57384282
Chromosome Location	chr2:47495526-47495527
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47415236..47417476-chr2:47493813..47496292,2	K562	blood:
2	chr2:47488474..47490725-chr2:47494644..47497319,2	MCF-7	breast:
3	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
4	chr2:47416956..47422470-chr2:47490735..47503252,22	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	chr2:47212036..47214586-chr2:47495464..47497856,2	MCF-7	breast:
8	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
9	chr2:47493422..47496136-chr2:47498839..47501811,3	MCF-7	breast:
10	chr2:47442644..47445166-chr2:47495179..47497867,2	MCF-7	breast:
11	chr2:47397785..47406895-chr2:47495364..47504312,55	MCF-7	breast:

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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58297888	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58913423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60451392	1.00[AMR][1000 genomes]
rs73929911	0.96[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	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:50 , 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	chr2:47491200-47499400	Enhancers	Fetal Intestine Large	intestine
4	chr2:47491600-47496400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:47491800-47496600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:47492000-47496400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:47492000-47498800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:47492800-47496000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:47492800-47499200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:47493000-47496000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:47493000-47496000	Weak transcription	HSMM	muscle
12	chr2:47493000-47496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47493000-47496400	Weak transcription	Placenta	Placenta
14	chr2:47493200-47496000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:47493200-47496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:47493200-47496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:47493200-47496400	Weak transcription	NH-A	brain
18	chr2:47493200-47496400	Weak transcription	NHEK	skin
19	chr2:47493200-47496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:47493200-47496800	Enhancers	Colonic Mucosa	Colon
21	chr2:47493200-47498600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:47493200-47499400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:47493200-47499400	Weak transcription	Fetal Brain Female	brain
24	chr2:47493400-47496000	Weak transcription	NHDF-Ad	bronchial
25	chr2:47493400-47496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:47493400-47496400	Weak transcription	Liver	Liver
27	chr2:47493400-47496400	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:47493400-47498600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47493400-47499200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:47493400-47500400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:47493600-47499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:47493800-47499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:47494000-47496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:47494000-47496400	Weak transcription	Stomach Mucosa	stomach
35	chr2:47494000-47496800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:47494400-47496400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:47494400-47496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:47494400-47498600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:47494800-47496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:47494800-47496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:47494800-47496600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:47495000-47496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:47495000-47496400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:47495000-47496400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:47495000-47496400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:47495000-47496400	Weak transcription	A549	lung
47	chr2:47495000-47496400	Weak transcription	HepG2	liver
48	chr2:47495000-47498800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:47495000-47499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:47495200-47496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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