Variant report

Variant	rs375260243
Chromosome Location	chr3:52057062-52057063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51975350..51976898-chr3:52056467..52059042,2	K562	blood:
2	chr3:52048651..52051946-chr3:52056389..52059628,4	K562	blood:
3	chr3:52048651..52051918-chr3:52057028..52059628,3	K562	blood:

Variant related genes	Relation type
ENSG00000041880	Chromatin interaction
ENSG00000114767	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv3398903	chr3:52056112-52061110	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52046200-52058600	Enhancers	Spleen	Spleen
2	chr3:52046200-52060600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:52048600-52061000	Enhancers	Fetal Muscle Leg	muscle
4	chr3:52050600-52073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:52052600-52058000	Enhancers	Fetal Heart	heart
6	chr3:52053000-52058400	Enhancers	Placenta	Placenta
7	chr3:52053000-52060400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:52054200-52057200	Weak transcription	GM12878-XiMat	blood
9	chr3:52054200-52057400	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:52054200-52057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:52054400-52059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:52054600-52060600	Enhancers	Lung	lung
13	chr3:52055000-52057800	Enhancers	Esophagus	oesophagus
14	chr3:52055000-52058000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:52055200-52058400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:52055200-52058400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:52055400-52058000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:52055600-52057200	Enhancers	K562	blood
19	chr3:52055600-52057400	Enhancers	Fetal Brain Female	brain
20	chr3:52055600-52058000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:52055600-52058000	Enhancers	Brain Substantia Nigra	brain
22	chr3:52055600-52058200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:52055600-52058200	Enhancers	Fetal Stomach	stomach
24	chr3:52055600-52058400	Enhancers	Brain Anterior Caudate	brain
25	chr3:52055600-52058600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:52055600-52058600	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:52055600-52058600	Enhancers	Brain Hippocampus Middle	brain
28	chr3:52055600-52058600	Enhancers	NHDF-Ad	bronchial
29	chr3:52055600-52060800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr3:52055800-52057400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr3:52055800-52057600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:52055800-52057800	Enhancers	Fetal Brain Male	brain
33	chr3:52055800-52058200	Enhancers	Brain Angular Gyrus	brain
34	chr3:52055800-52058400	Bivalent Enhancer	HepG2	liver
35	chr3:52055800-52060600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:52055800-52060800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr3:52056000-52058000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:52056000-52058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:52056000-52058200	Enhancers	Fetal Lung	lung
40	chr3:52056000-52058200	Enhancers	NHLF	lung
41	chr3:52056000-52058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:52056000-52062400	Weak transcription	NHEK	skin
43	chr3:52056200-52057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:52056200-52057400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:52056200-52057600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:52056200-52057600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:52056200-52057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:52056200-52057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:52056200-52058800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:52056400-52057200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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