Variant report

Variant	rs72969103
Chromosome Location	chr3:119669539-119669540
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	chr3:119643647..119646085-chr3:119668156..119670521,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

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]
rs72967103	0.88[AFR][1000 genomes];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]
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]
rs72969170	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:4 , 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	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
3	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
4	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
5	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:119640600-119672400	Weak transcription	Osteobl	bone
7	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
9	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
10	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
12	chr3:119650200-119669800	Weak transcription	Liver	Liver
13	chr3:119650400-119669600	Weak transcription	Left Ventricle	heart
14	chr3:119653600-119669600	Weak transcription	Ovary	ovary
15	chr3:119656400-119680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:119656400-119681200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:119656600-119669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:119658000-119669800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:119658200-119669600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:119658400-119688400	Weak transcription	NHEK	skin
23	chr3:119658400-119688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:119662000-119684800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:119662400-119700400	Weak transcription	Fetal Intestine Large	intestine
26	chr3:119663200-119669600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:119663600-119681200	Weak transcription	Primary T cells from cord blood	blood
28	chr3:119664000-119669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:119664000-119695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:119664200-119674400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:119664600-119673600	Weak transcription	Small Intestine	intestine
32	chr3:119664600-119700200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:119664600-119702400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr3:119664800-119669600	Weak transcription	Fetal Heart	heart
35	chr3:119665800-119670000	Weak transcription	GM12878-XiMat	blood
36	chr3:119665800-119671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:119665800-119697400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:119665800-119716800	Weak transcription	HSMM	muscle
39	chr3:119666000-119669600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:119666000-119669600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:119666000-119679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:119666000-119703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:119666200-119671200	Weak transcription	HUVEC	blood vessel
44	chr3:119666200-119673400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:119666200-119680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:119666200-119680600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:119666200-119687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:119666200-119688200	Weak transcription	HMEC	breast
49	chr3:119666200-119700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:119666200-119700400	Weak transcription	Fetal Thymus	thymus

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