Variant report

Variant	rs559788773
Chromosome Location	chr2:127412539-127412540
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	RCOR1	chr2:127412474-127413615	K562	blood:	n/a	n/a
2	MAX	chr2:127412432-127414432	K562	blood:	n/a	n/a
3	YY1	chr2:127412421-127412698	GM12891	blood:	n/a	chr2:127412592-127412600
4	YY1	chr2:127412428-127412962	K562	blood:	n/a	chr2:127412592-127412600
5	POLR2A	chr2:127412455-127417302	IMR90	lung:	n/a	n/a
6	YY1	chr2:127412417-127412670	GM12892	blood:	n/a	chr2:127412592-127412600
7	TEAD4	chr2:127412425-127413992	K562	blood:	n/a	n/a
8	JUN	chr2:127412363-127417264	K562	blood:	n/a	chr2:127417211-127417222
9	MYC	chr2:127412453-127415923	K562	blood:	n/a	chr2:127414864-127414873 chr2:127414671-127414680 chr2:127415837-127415846 chr2:127414843-127414853
10	ARID3A	chr2:127412458-127413073	K562	blood:	n/a	n/a
11	YY1	chr2:127412405-127412735	GM12878	blood:	n/a	chr2:127412592-127412600
12	RCOR1	chr2:127412442-127414343	K562	blood:	n/a	n/a
13	CUX1	chr2:127412484-127412884	K562	blood:	n/a	n/a

Variant related genes	Relation type
GYPC	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127408000-127413000	Weak transcription	Aorta	Aorta
2	chr2:127410400-127412600	Enhancers	K562	blood
3	chr2:127410800-127412600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:127410800-127412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:127410800-127414200	Weak transcription	Hela-S3	cervix
6	chr2:127411000-127412600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:127411000-127412800	Weak transcription	Ovary	ovary
8	chr2:127411400-127412600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:127411400-127412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:127411600-127412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:127411800-127412800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:127411800-127412800	Enhancers	Fetal Lung	lung
13	chr2:127411800-127413000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:127412000-127412800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:127412000-127413000	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:127412200-127413000	Enhancers	Primary T cells from cord blood	blood
17	chr2:127412200-127413000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:127412400-127412600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:127412400-127412600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:127412400-127412600	Enhancers	Adipose Nuclei	Adipose
21	chr2:127412400-127412600	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:127412400-127412800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:127412400-127412800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:127412400-127413000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:127412400-127413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:127412400-127413000	Enhancers	Fetal Heart	heart
27	chr2:127412400-127413000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:127412400-127413000	Enhancers	Fetal Stomach	stomach
29	chr2:127412400-127413000	Enhancers	Left Ventricle	heart
30	chr2:127412400-127413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:127412400-127413200	Enhancers	Fetal Thymus	thymus
32	chr2:127412400-127413600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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