Variant report

Variant	rs73969515
Chromosome Location	chr2:151480532-151480533
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	FOXP2	chr2:151480429-151480997	PFSK-1	brain:	n/a	n/a
7	GATA2	chr2:151480529-151481021	HUVEC	blood vessel:	n/a	n/a
8	PBX3	chr2:151480441-151481079	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr2:151480287-151481111	HUVEC	blood vessel:	n/a	n/a
10	PBX3	chr2:151480398-151481070	SK-N-SH	brain:	n/a	n/a
11	SIN3AK20	chr2:151480397-151480681	PFSK-1	brain:	n/a	n/a
12	EP300	chr2:151480474-151480915	SK-N-SH_RA	brain:	n/a	chr2:151480741-151480750
13	EP300	chr2:151480422-151480930	SK-N-SH_RA	brain:	n/a	chr2:151480741-151480750
14	GATA3	chr2:151480410-151480978	SK-N-SH	brain:	n/a	chr2:151480528-151480538

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]
rs73969517	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:56 , 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	chr2:151476800-151480600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:151476800-151483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:151476800-151485200	Weak transcription	Psoas Muscle	Psoas
5	chr2:151478400-151482000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:151478800-151485200	Weak transcription	Aorta	Aorta
7	chr2:151479200-151483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:151479400-151480600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:151479400-151480600	Weak transcription	Fetal Lung	lung
10	chr2:151479400-151480600	Weak transcription	Left Ventricle	heart
11	chr2:151479400-151480800	Weak transcription	Hela-S3	cervix
12	chr2:151479400-151481200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:151479400-151481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:151479400-151482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:151479400-151482800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:151480000-151480800	Enhancers	Brain Germinal Matrix	brain
17	chr2:151480000-151480800	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:151480000-151481400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:151480000-151481400	Enhancers	NH-A	brain
20	chr2:151480000-151481600	Enhancers	NHDF-Ad	bronchial
21	chr2:151480000-151482000	Enhancers	HSMM	muscle
22	chr2:151480000-151482000	Enhancers	HUVEC	blood vessel
23	chr2:151480000-151482000	Enhancers	NHLF	lung
24	chr2:151480000-151482200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:151480000-151484600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:151480000-151485600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:151480200-151480800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:151480200-151480800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:151480200-151481000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:151480200-151481200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:151480200-151481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:151480200-151481200	Flanking Active TSS	Dnd41	blood
33	chr2:151480200-151482000	Enhancers	HSMMtube	muscle
34	chr2:151480400-151480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:151480400-151480600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:151480400-151480600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:151480400-151480600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
38	chr2:151480400-151480600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:151480400-151480800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:151480400-151480800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:151480400-151480800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr2:151480400-151480800	Enhancers	Fetal Brain Female	brain
43	chr2:151480400-151480800	Enhancers	Fetal Heart	heart
44	chr2:151480400-151480800	Enhancers	Fetal Stomach	stomach
45	chr2:151480400-151480800	Enhancers	Fetal Thymus	thymus
46	chr2:151480400-151481000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:151480400-151481000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:151480400-151481000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:151480400-151481000	Enhancers	Adipose Nuclei	Adipose
50	chr2:151480400-151481000	Enhancers	Lung	lung

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