Variant report

Variant	rs369729024
Chromosome Location	chr3:52210458-52210459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52209175..52211275-chr3:52220260..52222070,2	K562	blood:
2	chr3:52206232..52208818-chr3:52209949..52213336,4	K562	blood:
3	chr3:52208921..52211752-chr3:52239089..52241335,2	MCF-7	breast:
4	chr3:52006199..52007889-chr3:52209078..52210620,2	K562	blood:
5	chr3:52209128..52211243-chr3:52227235..52228874,2	MCF-7	breast:
6	chr3:52205965..52208673-chr3:52209831..52213095,4	K562	blood:

Variant related genes	Relation type
ENSG00000023330	Chromatin interaction
ENSG00000248487	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	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
2	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
3	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
4	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
5	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
9	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
10	esv3463345	chr3:52210322-52210752	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3463346	chr3:52210322-52210752	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52204800-52215600	Weak transcription	Right Ventricle	heart
2	chr3:52206000-52211000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:52206200-52210600	Weak transcription	Stomach Mucosa	stomach
4	chr3:52208400-52212800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:52209000-52210600	Weak transcription	NHEK	skin
6	chr3:52209000-52211000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:52209200-52211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:52209200-52211000	Weak transcription	HMEC	breast
9	chr3:52209200-52211000	Weak transcription	NHLF	lung
10	chr3:52209200-52212000	Enhancers	Spleen	Spleen
11	chr3:52209400-52210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:52209400-52210600	Weak transcription	Hela-S3	cervix
13	chr3:52209400-52211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:52209600-52210600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:52209800-52211600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:52210000-52211000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:52210000-52212200	Enhancers	Esophagus	oesophagus
18	chr3:52210000-52218200	Enhancers	Liver	Liver
19	chr3:52210200-52213200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:52210400-52210800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:52210400-52211600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:52210400-52212000	Enhancers	Gastric	stomach
23	chr3:52210400-52212200	Enhancers	Adipose Nuclei	Adipose
24	chr3:52210400-52212200	Flanking Active TSS	HepG2	liver
25	chr3:52210400-52213200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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