Variant report

Variant	rs16831695
Chromosome Location	chr3:120513643-120513644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120279797..120280809-chr3:120513558..120514502,6	MCF-7	breast:
2	chr3:120341598..120342496-chr3:120513592..120514539,5	MCF-7	breast:
3	chr3:120460113..120461922-chr3:120512170..120514809,2	MCF-7	breast:
4	chr3:120313637..120315833-chr3:120512529..120515092,2	MCF-7	breast:
5	chr3:120342144..120344111-chr3:120512256..120514740,2	K562	blood:
6	chr3:120279971..120280796-chr3:120513577..120514769,5	K562	blood:
7	chr3:120279832..120280786-chr3:120513592..120514490,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065518	Chromatin interaction
ENSG00000153767	Chromatin interaction
ENSG00000144840	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16831597	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16831660	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55866013	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6799109	0.87[AFR][1000 genomes];1.00[EUR][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:28 , 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	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:120501400-120513800	Weak transcription	A549	lung
5	chr3:120501400-120514400	Weak transcription	Fetal Intestine Large	intestine
6	chr3:120501600-120513800	Weak transcription	Liver	Liver
7	chr3:120509200-120514400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:120509800-120514000	Enhancers	HUVEC	blood vessel
9	chr3:120510800-120514400	Enhancers	Osteobl	bone
10	chr3:120511400-120514000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:120511400-120514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:120511400-120516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:120511400-120516800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:120512400-120514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:120512600-120513800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:120512800-120513800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:120512800-120513800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:120512800-120517000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:120512800-120517200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:120512800-120517200	Weak transcription	NHDF-Ad	bronchial
21	chr3:120513000-120514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:120513000-120515400	Enhancers	HepG2	liver
23	chr3:120513000-120517000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:120513200-120513800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:120513200-120513800	Weak transcription	NH-A	brain
26	chr3:120513400-120514000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:120513600-120514000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:120513600-120514600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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