Variant report

Variant	rs58120873
Chromosome Location	chr2:47313562-47313563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47312417..47315295-chr2:47318337..47320421,2	MCF-7	breast:
2	chr2:47312009..47319415-chr2:47398595..47405362,13	K562	blood:
3	chr2:47311949..47314446-chr2:47401904..47404430,2	K562	blood:
4	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
5	chr2:47292470..47294231-chr2:47312164..47314753,2	K562	blood:
6	chr2:47313243..47315794-chr2:47321683..47323508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10865215	0.95[AFR][1000 genomes]
rs1474394	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4953460	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4953462	0.95[AFR][1000 genomes]
rs6758667	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	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
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv2716	chr2:47312166-47336600	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47307200-47315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:47307600-47313800	Weak transcription	Fetal Brain Male	brain
5	chr2:47307600-47315400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:47307600-47315600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:47307600-47316000	Weak transcription	NHDF-Ad	bronchial
8	chr2:47309800-47317800	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:47310000-47313800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:47310000-47316600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:47310000-47318600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:47310200-47317200	Enhancers	Left Ventricle	heart
13	chr2:47310400-47314000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:47310400-47314600	Enhancers	Brain Substantia Nigra	brain
15	chr2:47310400-47315600	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:47310400-47318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:47310600-47314800	Enhancers	Stomach Mucosa	stomach
18	chr2:47310600-47317400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:47310800-47319200	Enhancers	Fetal Lung	lung
20	chr2:47310800-47319200	Enhancers	HUVEC	blood vessel
21	chr2:47311200-47316000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:47311200-47317200	Enhancers	Spleen	Spleen
23	chr2:47311400-47318600	Weak transcription	Liver	Liver
24	chr2:47311600-47313800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:47311600-47315600	Weak transcription	Gastric	stomach
26	chr2:47311600-47317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:47311800-47313600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:47311800-47314600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:47311800-47316600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:47312200-47313800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr2:47312200-47313800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:47312200-47314000	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:47312200-47314200	Enhancers	Brain Hippocampus Middle	brain
34	chr2:47312200-47314200	Enhancers	K562	blood
35	chr2:47312200-47314400	Enhancers	Fetal Stomach	stomach
36	chr2:47312200-47314600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:47312200-47314600	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:47312200-47314800	Enhancers	Psoas Muscle	Psoas
39	chr2:47312400-47313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:47312400-47313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:47312400-47314000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:47312400-47314000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:47312400-47314400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:47312400-47314400	Enhancers	Fetal Kidney	kidney
45	chr2:47312400-47314400	Enhancers	NHLF	lung
46	chr2:47312400-47314600	Enhancers	Small Intestine	intestine
47	chr2:47312400-47314800	Enhancers	A549	lung
48	chr2:47312600-47313600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:47312600-47313800	Enhancers	Fetal Thymus	thymus
50	chr2:47312600-47314000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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