Variant report

Variant	rs352159
Chromosome Location	chr3:52220483-52220484
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	chr3:52219244..52220866-chr3:52225741..52228614,2	MCF-7	breast:
2	chr3:52209175..52211275-chr3:52220260..52222070,2	K562	blood:

Variant related genes	Relation type
ENSG00000242849	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs104902	0.91[EUR][1000 genomes]
rs164641	0.80[EUR][1000 genomes]
rs352155	0.91[EUR][1000 genomes]
rs352156	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs352160	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs352173	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52212000-52222400	Weak transcription	Stomach Mucosa	stomach
2	chr3:52212800-52223800	Weak transcription	Esophagus	oesophagus
3	chr3:52214600-52221000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:52215800-52224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:52216600-52223600	Enhancers	HepG2	liver
6	chr3:52217200-52224200	Weak transcription	Right Atrium	heart
7	chr3:52217400-52224800	Weak transcription	Spleen	Spleen
8	chr3:52217600-52231600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:52218400-52220600	Weak transcription	Placenta	Placenta
10	chr3:52218400-52222200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:52218400-52223800	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:52218600-52224800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:52218800-52229800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:52219000-52223000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:52219200-52222200	Weak transcription	Fetal Intestine Small	intestine
16	chr3:52219200-52224000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:52219200-52224200	Weak transcription	Adipose Nuclei	Adipose
18	chr3:52219200-52224200	Weak transcription	Left Ventricle	heart
19	chr3:52219400-52220600	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:52219400-52225000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr3:52219600-52225200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:52219800-52220800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:52220000-52220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:52220200-52222400	Weak transcription	K562	blood
25	chr3:52220200-52224600	Weak transcription	Right Ventricle	heart
26	chr3:52220200-52230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:52220400-52221000	Enhancers	Liver	Liver
28	chr3:52220400-52222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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