Variant report

Variant	rs565689823
Chromosome Location	chr3:52056401-52056402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52048651..52051946-chr3:52056389..52059628,4	K562	blood:
2	chr3:52053407..52057032-chr3:52057873..52061894,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:70 , 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	chr3:52048000-52056600	Enhancers	Right Ventricle	heart
4	chr3:52048600-52056600	Enhancers	Left Ventricle	heart
5	chr3:52048600-52056800	Enhancers	Psoas Muscle	Psoas
6	chr3:52048600-52061000	Enhancers	Fetal Muscle Leg	muscle
7	chr3:52050000-52056600	Enhancers	Right Atrium	heart
8	chr3:52050600-52073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:52052600-52058000	Enhancers	Fetal Heart	heart
10	chr3:52053000-52058400	Enhancers	Placenta	Placenta
11	chr3:52053000-52060400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:52054200-52057200	Weak transcription	GM12878-XiMat	blood
13	chr3:52054200-52057400	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:52054200-52057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:52054400-52059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:52054600-52060600	Enhancers	Lung	lung
17	chr3:52055000-52057800	Enhancers	Esophagus	oesophagus
18	chr3:52055000-52058000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:52055200-52056600	Enhancers	HSMM	muscle
20	chr3:52055200-52058400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:52055200-52058400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:52055400-52056600	Enhancers	Osteobl	bone
23	chr3:52055400-52058000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr3:52055600-52057200	Enhancers	K562	blood
25	chr3:52055600-52057400	Enhancers	Fetal Brain Female	brain
26	chr3:52055600-52058000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:52055600-52058000	Enhancers	Brain Substantia Nigra	brain
28	chr3:52055600-52058200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:52055600-52058200	Enhancers	Fetal Stomach	stomach
30	chr3:52055600-52058400	Enhancers	Brain Anterior Caudate	brain
31	chr3:52055600-52058600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:52055600-52058600	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:52055600-52058600	Enhancers	Brain Hippocampus Middle	brain
34	chr3:52055600-52058600	Enhancers	NHDF-Ad	bronchial
35	chr3:52055600-52060800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr3:52055800-52057000	Enhancers	Adipose Nuclei	Adipose
37	chr3:52055800-52057400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:52055800-52057600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:52055800-52057800	Enhancers	Fetal Brain Male	brain
40	chr3:52055800-52058200	Enhancers	Brain Angular Gyrus	brain
41	chr3:52055800-52058400	Bivalent Enhancer	HepG2	liver
42	chr3:52055800-52060600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:52055800-52060800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:52056000-52056600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:52056000-52058000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:52056000-52058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:52056000-52058200	Enhancers	Fetal Lung	lung
48	chr3:52056000-52058200	Enhancers	NHLF	lung
49	chr3:52056000-52058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:52056000-52062400	Weak transcription	NHEK	skin

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