Variant report

Variant	rs72969170
Chromosome Location	chr3:119766007-119766008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119765292..119768147-chr3:119813625..119815226,2	K562	blood:
2	chr3:119756140..119758480-chr3:119764855..119767283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs57461967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57512425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58321096	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58340674	1.00[AMR][1000 genomes]
rs58533045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742584	1.00[AMR][1000 genomes]
rs72967126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967130	0.92[AFR][1000 genomes]
rs72967133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967181	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967186	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967191	1.00[AMR][1000 genomes]
rs72967195	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969135	1.00[AMR][1000 genomes]
rs72969142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971006	1.00[AMR][1000 genomes]
rs72971013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971026	1.00[AFR][1000 genomes]
rs72971050	1.00[AMR][1000 genomes]
rs72971051	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119751800-119766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:119757800-119769800	ZNF genes & repeats	Dnd41	blood
3	chr3:119759400-119786200	Weak transcription	Hela-S3	cervix
4	chr3:119760000-119770200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:119760000-119771200	Weak transcription	NHDF-Ad	bronchial
6	chr3:119760200-119766400	Weak transcription	Colonic Mucosa	Colon
7	chr3:119760200-119767400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:119760200-119767400	Weak transcription	Right Ventricle	heart
9	chr3:119760200-119768200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:119760200-119768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:119760200-119768800	Weak transcription	Ovary	ovary
12	chr3:119760200-119779400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:119760200-119805400	Weak transcription	HMEC	breast
14	chr3:119760800-119767400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:119761200-119769200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:119761400-119768000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:119761600-119768200	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:119763200-119769600	Weak transcription	Gastric	stomach
19	chr3:119763400-119766800	Weak transcription	Brain Angular Gyrus	brain
20	chr3:119764400-119769800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:119764600-119766600	Weak transcription	Brain Substantia Nigra	brain
22	chr3:119764600-119768800	Weak transcription	Aorta	Aorta
23	chr3:119764600-119812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:119764800-119767400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:119764800-119768000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:119764800-119768200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:119764800-119769400	Weak transcription	Fetal Lung	lung
28	chr3:119765000-119767400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:119765000-119768400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:119765000-119769000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:119765000-119770800	Weak transcription	Primary B cells from cord blood	blood
32	chr3:119765200-119766400	Strong transcription	NHEK	skin
33	chr3:119765200-119766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:119765200-119767000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:119765200-119768400	Weak transcription	Fetal Brain Female	brain
36	chr3:119765200-119771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:119765400-119766800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:119765600-119766400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:119765600-119769400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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