Variant report

Variant	rs527905669
Chromosome Location	chr1:212457561-212457562
allele	A/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	PML	chr1:212457434-212459414	K562	blood:	n/a	n/a
2	NR2F2	chr1:212457551-212458977	K562	blood:	n/a	n/a
3	POLR2A	chr1:212457387-212460077	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr1:212457494-212460070	IMR90	lung:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
5	IRF1	chr1:212457239-212458941	K562	blood:	n/a	chr1:212458492-212458501 chr1:212458584-212458593
6	MXI1	chr1:212457552-212461067	SK-N-SH	brain:	n/a	chr1:212458164-212458173
7	TEAD4	chr1:212457189-212459093	K562	blood:	n/a	n/a
8	STAT5A	chr1:212457552-212460100	GM12878	blood:	n/a	chr1:212459197-212459209 chr1:212458281-212458293 chr1:212458418-212458430
9	STAT5A	chr1:212457532-212458452	K562	blood:	n/a	chr1:212458281-212458293 chr1:212458418-212458430
10	MYC	chr1:212457299-212460087	K562	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
11	USF2	chr1:212457532-212457685	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:212456992-212459316	K562	blood:	n/a	n/a
13	POLR2A	chr1:212457330-212459882	HepG2	liver:	n/a	n/a
14	MYC	chr1:212457522-212459043	K562	blood:	n/a	chr1:212458825-212458834 chr1:212458612-212458622
15	TRIM28	chr1:212457241-212459040	K562	blood:	n/a	n/a
16	CEBPB	chr1:212457542-212457582	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:212457357-212460093	H1-hESC	embryonic stem cell:	n/a	n/a
18	IRF1	chr1:212457459-212458971	K562	blood:	n/a	chr1:212458492-212458501 chr1:212458584-212458593
19	CUX1	chr1:212457384-212458444	K562	blood:	n/a	n/a
20	POLR2A	chr1:212457217-212459127	K562	blood:	n/a	n/a
21	POLR2A	chr1:212457473-212459815	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212456696..212458579-chr1:212781101..212782934,2	K562	blood:
2	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
3	chr1:212412059..212414771-chr1:212457141..212460408,3	K562	blood:
4	chr1:212427390..212429185-chr1:212456996..212458799,2	K562	blood:
5	chr1:212413989..212416642-chr1:212457205..212458849,2	K562	blood:
6	chr1:212456717..212458394-chr1:212483325..212485097,2	MCF-7	breast:
7	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:
8	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
9	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
10	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:

Variant related genes	Relation type
PPP2R5A	TF binding region
ENSG00000226251	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000264358	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1835118	chr1:212457414-212459623	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1837179	chr1:212457414-212459623	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1836019	chr1:212457414-212460077	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212446000-212457600	Weak transcription	Fetal Brain Female	brain
2	chr1:212457000-212457600	Enhancers	Fetal Lung	lung
3	chr1:212457000-212457600	Flanking Active TSS	K562	blood
4	chr1:212457000-212457800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:212457000-212458000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr1:212457000-212458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:212457000-212458200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr1:212457000-212458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
11	chr1:212457200-212457600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:212457200-212457600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:212457200-212457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:212457200-212457600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:212457200-212457600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:212457200-212457600	Enhancers	Fetal Thymus	thymus
17	chr1:212457200-212457600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:212457200-212457600	Flanking Active TSS	HepG2	liver
19	chr1:212457200-212457600	Enhancers	NHEK	skin
20	chr1:212457200-212457600	Enhancers	NHLF	lung
21	chr1:212457200-212457800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:212457200-212457800	Flanking Active TSS	A549	lung
23	chr1:212457200-212458000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:212457200-212458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:212457200-212458000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:212457200-212458000	Flanking Active TSS	Liver	Liver
27	chr1:212457200-212458000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr1:212457200-212458000	Enhancers	Spleen	Spleen
29	chr1:212457200-212458000	Flanking Active TSS	Hela-S3	cervix
30	chr1:212457200-212458200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:212457200-212458200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:212457200-212458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:212457200-212458200	Flanking Active TSS	Dnd41	blood
34	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
41	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:212457400-212457600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:212457400-212457600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:212457400-212457600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:212457400-212457600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:212457400-212457600	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:212457400-212457600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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