Variant report

Variant	rs553823342
Chromosome Location	chr3:52083528-52083529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52081717..52084424-chr3:52095750..52098933,3	K562	blood:
2	chr3:52071945..52074721-chr3:52081198..52083628,2	K562	blood:

Variant related genes	Relation type
ENSG00000256097	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv1792042	chr3:52070955-52091254	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	esv1793040	chr3:52070955-52091254	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1797975	chr3:52070955-52091254	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1798814	chr3:52070955-52091254	Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv963319	chr3:52082531-52085712	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52076000-52086400	Weak transcription	Fetal Brain Male	brain
2	chr3:52078000-52084000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:52078200-52083800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:52078200-52084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:52078600-52084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:52079800-52083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:52079800-52084000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52079800-52085000	Weak transcription	K562	blood
9	chr3:52080800-52085000	Weak transcription	GM12878-XiMat	blood
10	chr3:52081000-52084000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:52081200-52083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:52081200-52086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:52081400-52085200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:52081400-52085800	Strong transcription	Thymus	Thymus
15	chr3:52081400-52086400	Weak transcription	Psoas Muscle	Psoas
16	chr3:52081600-52084000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:52081600-52085400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:52081600-52085600	Strong transcription	Fetal Intestine Small	intestine
19	chr3:52081600-52088600	Genic enhancers	Placenta	Placenta
20	chr3:52081600-52088800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:52081800-52083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:52081800-52083800	Strong transcription	Adipose Nuclei	Adipose
23	chr3:52081800-52084800	Genic enhancers	NHEK	skin
24	chr3:52081800-52085200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:52081800-52085800	Genic enhancers	Brain Anterior Caudate	brain
26	chr3:52081800-52086000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:52081800-52086200	Strong transcription	Fetal Brain Female	brain
28	chr3:52081800-52086600	Genic enhancers	Right Ventricle	heart
29	chr3:52081800-52086800	Genic enhancers	Lung	lung
30	chr3:52081800-52088200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:52082000-52083800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:52082000-52083800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:52082000-52084000	Strong transcription	Primary T cells from cord blood	blood
34	chr3:52082000-52084200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:52082000-52084800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:52082000-52085000	Weak transcription	HSMM	muscle
37	chr3:52082000-52085400	Weak transcription	HepG2	liver
38	chr3:52082000-52086000	Weak transcription	Fetal Heart	heart
39	chr3:52082000-52086200	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr3:52082000-52086200	Weak transcription	HSMMtube	muscle
41	chr3:52082000-52086600	Weak transcription	A549	lung
42	chr3:52082200-52085200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr3:52082200-52085400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:52082200-52085600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:52082200-52085600	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr3:52082200-52085800	Genic enhancers	Brain Hippocampus Middle	brain
47	chr3:52082200-52086200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr3:52082200-52086200	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr3:52082200-52086400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:52082200-52086800	Strong transcription	Brain Germinal Matrix	brain

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