Variant report

Variant	rs172819
Chromosome Location	chr3:120516431-120516432
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	chr3:120313513..120316434-chr3:120515980..120517964,2	K562	blood:

Variant related genes	Relation type
ENSG00000065518	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10511404	0.88[ASN][1000 genomes]
rs11714961	0.87[ASN][1000 genomes]
rs13316584	0.84[ASN][1000 genomes]
rs1566988	0.83[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs167722	1.00[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs178725	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292719	0.83[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs373188	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41374647	0.82[YRI][hapmap]
rs417061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs424044	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4501055	0.81[ASN][1000 genomes]
rs519336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55831173	0.85[ASN][1000 genomes]
rs56406902	0.85[ASN][1000 genomes]
rs607953	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6778859	0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6796222	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs73183726	0.84[ASN][1000 genomes]
rs7620570	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs7633399	0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9814744	0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs9838458	0.83[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9854081	0.83[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9872831	0.84[ASN][1000 genomes]
rs9985346	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
3	chr3:120511400-120516800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:120512800-120517000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:120512800-120517200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:120512800-120517200	Weak transcription	NHDF-Ad	bronchial
7	chr3:120513000-120517000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:120514000-120517200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:120514400-120517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:120514400-120517200	Weak transcription	Osteobl	bone
11	chr3:120514600-120518200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:120515400-120516600	Enhancers	Fetal Lung	lung
13	chr3:120515400-120517000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:120515600-120516800	Weak transcription	A549	lung
15	chr3:120515800-120517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:120516000-120517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:120516000-120517200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:120516000-120517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:120516000-120517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:120516000-120517800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:120516200-120517000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:120516200-120517600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:120516400-120517000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:120516400-120517400	Enhancers	H9 Cell Line	embryonic stem cell

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