Variant report

Variant	rs188613491
Chromosome Location	chr2:127412628-127412629
allele	A/G
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	JUND	chr2:127412552-127412937	K562	blood:	n/a	n/a
3	TBL1XR1	chr2:127412546-127413074	K562	blood:	n/a	n/a
4	ZC3H11A	chr2:127412622-127412792	K562	blood:	n/a	n/a
5	POLR2A	chr2:127412552-127417536	K562	blood:	n/a	n/a
6	MAX	chr2:127412432-127414432	K562	blood:	n/a	n/a
7	EP300	chr2:127412607-127413838	K562	blood:	n/a	chr2:127413334-127413350 chr2:127412920-127412930
8	YY1	chr2:127412421-127412698	GM12891	blood:	n/a	chr2:127412592-127412600
9	ZNF384	chr2:127412598-127414279	K562	blood:	n/a	n/a
10	YY1	chr2:127412428-127412962	K562	blood:	n/a	chr2:127412592-127412600
11	MYC	chr2:127412553-127416132	K562	blood:	n/a	chr2:127414864-127414873 chr2:127414671-127414680 chr2:127415837-127415846 chr2:127414843-127414853
12	POLR2A	chr2:127412455-127417302	IMR90	lung:	n/a	n/a
13	YY1	chr2:127412417-127412670	GM12892	blood:	n/a	chr2:127412592-127412600
14	TEAD4	chr2:127412425-127413992	K562	blood:	n/a	n/a
15	POLR2A	chr2:127412576-127416145	K562	blood:	n/a	n/a
16	JUN	chr2:127412363-127417264	K562	blood:	n/a	chr2:127417211-127417222
17	POLR2A	chr2:127412576-127420620	PBDE	blood:	n/a	n/a
18	UBTF	chr2:127412613-127416015	K562	blood:	n/a	n/a
19	CEBPB	chr2:127412589-127412916	K562	blood:	n/a	n/a
20	MYC	chr2:127412453-127415923	K562	blood:	n/a	chr2:127414864-127414873 chr2:127414671-127414680 chr2:127415837-127415846 chr2:127414843-127414853
21	ARID3A	chr2:127412458-127413073	K562	blood:	n/a	n/a
22	YY1	chr2:127412405-127412735	GM12878	blood:	n/a	chr2:127412592-127412600
23	POLR2A	chr2:127412624-127416164	K562	blood:	n/a	n/a
24	RCOR1	chr2:127412442-127414343	K562	blood:	n/a	n/a
25	MAX	chr2:127412559-127414357	K562	blood:	n/a	n/a
26	CUX1	chr2:127412484-127412884	K562	blood:	n/a	n/a
27	GATA1	chr2:127412594-127415107	PBDE	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127408000-127413000	Weak transcription	Aorta	Aorta
2	chr2:127410800-127412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:127410800-127414200	Weak transcription	Hela-S3	cervix
4	chr2:127411000-127412800	Weak transcription	Ovary	ovary
5	chr2:127411600-127412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:127411800-127412800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:127411800-127412800	Enhancers	Fetal Lung	lung
8	chr2:127411800-127413000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:127412000-127412800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:127412000-127413000	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:127412200-127413000	Enhancers	Primary T cells from cord blood	blood
12	chr2:127412200-127413000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:127412400-127412800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:127412400-127412800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:127412400-127413000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:127412400-127413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:127412400-127413000	Enhancers	Fetal Heart	heart
18	chr2:127412400-127413000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:127412400-127413000	Enhancers	Fetal Stomach	stomach
20	chr2:127412400-127413000	Enhancers	Left Ventricle	heart
21	chr2:127412400-127413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:127412400-127413200	Enhancers	Fetal Thymus	thymus
23	chr2:127412400-127413600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:127412600-127412800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:127412600-127412800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:127412600-127412800	Enhancers	Colon Smooth Muscle	Colon
27	chr2:127412600-127412800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:127412600-127412800	Enhancers	Lung	lung
29	chr2:127412600-127413000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:127412600-127413000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr2:127412600-127413000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr2:127412600-127413000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:127412600-127413000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:127412600-127413000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:127412600-127413000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:127412600-127413000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:127412600-127413000	Enhancers	Colonic Mucosa	Colon
38	chr2:127412600-127413000	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:127412600-127413000	Enhancers	GM12878-XiMat	blood
40	chr2:127412600-127413000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:127412600-127413000	Enhancers	NHDF-Ad	bronchial
42	chr2:127412600-127413000	Enhancers	NHLF	lung
43	chr2:127412600-127413200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr2:127412600-127413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:127412600-127413200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:127412600-127413200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:127412600-127413200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:127412600-127413200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:127412600-127413200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:127412600-127413200	Enhancers	Primary monocytes fromperipheralblood	blood

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