Variant report

Variant	rs73969517
Chromosome Location	chr2:151481000-151481001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr2:151480342-151481061	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr2:151480422-151481223	SK-N-SH	brain:	n/a	chr2:151480528-151480538
3	TCF12	chr2:151480311-151481170	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr2:151480429-151481146	SK-N-SH	brain:	n/a	n/a
5	JUN	chr2:151480514-151481010	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr2:151480529-151481021	HUVEC	blood vessel:	n/a	n/a
7	PBX3	chr2:151480441-151481079	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:151480287-151481111	HUVEC	blood vessel:	n/a	n/a
9	PBX3	chr2:151480398-151481070	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000232359	TF binding region
ENSG00000224048	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs35787666	0.87[AFR][1000 genomes]
rs55907206	0.83[AFR][1000 genomes]
rs56722220	0.87[AFR][1000 genomes]
rs59073296	0.87[AFR][1000 genomes]
rs73967603	0.87[AFR][1000 genomes]
rs73969515	1.00[AFR][1000 genomes]
rs73969536	1.00[AFR][1000 genomes]
rs73969537	1.00[AFR][1000 genomes]
rs73969539	1.00[AFR][1000 genomes]
rs73969540	1.00[AFR][1000 genomes]
rs73969541	1.00[AFR][1000 genomes]
rs73969544	0.81[AFR][1000 genomes]
rs73969545	0.91[AFR][1000 genomes]
rs73970505	0.83[AFR][1000 genomes]
rs73970507	0.87[AFR][1000 genomes]
rs73970510	0.87[AFR][1000 genomes]
rs73970514	0.87[AFR][1000 genomes]
rs73970518	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151473000-151487000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:151476800-151483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:151476800-151485200	Weak transcription	Psoas Muscle	Psoas
4	chr2:151478400-151482000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:151478800-151485200	Weak transcription	Aorta	Aorta
6	chr2:151479200-151483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:151479400-151481200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:151479400-151481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:151479400-151482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:151479400-151482800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:151480000-151481400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:151480000-151481400	Enhancers	NH-A	brain
13	chr2:151480000-151481600	Enhancers	NHDF-Ad	bronchial
14	chr2:151480000-151482000	Enhancers	HSMM	muscle
15	chr2:151480000-151482000	Enhancers	HUVEC	blood vessel
16	chr2:151480000-151482000	Enhancers	NHLF	lung
17	chr2:151480000-151482200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:151480000-151484600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:151480000-151485600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:151480200-151481000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:151480200-151481200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:151480200-151481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:151480200-151481200	Flanking Active TSS	Dnd41	blood
24	chr2:151480200-151482000	Enhancers	HSMMtube	muscle
25	chr2:151480400-151481000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:151480400-151481000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:151480400-151481000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:151480400-151481000	Enhancers	Adipose Nuclei	Adipose
29	chr2:151480400-151481000	Enhancers	Lung	lung
30	chr2:151480400-151481000	Enhancers	Right Atrium	heart
31	chr2:151480400-151481000	Enhancers	HMEC	breast
32	chr2:151480400-151481000	Enhancers	NHEK	skin
33	chr2:151480400-151481200	Enhancers	Osteobl	bone
34	chr2:151480400-151481400	Enhancers	Fetal Brain Male	brain
35	chr2:151480400-151485200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:151480600-151481000	Enhancers	Brain Hippocampus Middle	brain
37	chr2:151480600-151481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:151480600-151481400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:151480600-151482200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:151480800-151481000	Enhancers	Brain Anterior Caudate	brain
41	chr2:151480800-151482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:151480800-151482600	Enhancers	Hela-S3	cervix
43	chr2:151480800-151483600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:151480800-151487200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:151481000-151481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:151481000-151481400	Weak transcription	HMEC	breast
47	chr2:151481000-151482000	Weak transcription	NHEK	skin
48	chr2:151481000-151483400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:151481000-151483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:151481000-151483600	Weak transcription	Adipose Nuclei	Adipose

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