Variant report

Variant	rs559826945
Chromosome Location	chr12:123459818-123459819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr12:123458732-123460330	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:123458579-123460096	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr12:123459582-123459864	GM12878	blood:	n/a	chr12:123459727-123459736
4	ARID3A	chr12:123458964-123459842	K562	blood:	n/a	n/a
5	TBP	chr12:123458794-123460181	HepG2	liver:	n/a	n/a
6	CBX3	chr12:123458781-123460093	K562	blood:	n/a	n/a
7	RCOR1	chr12:123458784-123459955	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:123458956-123460116	IMR90	lung:	n/a	n/a
9	REST	chr12:123458756-123460291	HL-60	blood:	n/a	n/a
10	GTF2F1	chr12:123458688-123460029	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:123458836-123460173	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:123458867-123460943	K562	blood:	n/a	n/a
13	POLR2A	chr12:123458676-123460528	Hela-S3	cervix:	n/a	n/a
14	ZBTB33	chr12:123459523-123459953	HCT-116	colon:	n/a	n/a
15	POLR2A	chr12:123458783-123460106	GM12878	blood:	n/a	n/a
16	RCOR1	chr12:123459059-123459950	K562	blood:	n/a	n/a
17	PBX3	chr12:123458830-123460139	A549	lung:	n/a	n/a
18	GABPA	chr12:123458714-123460269	A549	lung:	n/a	n/a
19	TAF1	chr12:123458904-123460021	K562	blood:	n/a	n/a
20	CTCF	chr12:123459638-123459821	K562	blood:	n/a	n/a
21	POLR2A	chr12:123458534-123466263	K562	blood:	n/a	n/a
22	RAD21	chr12:123459570-123460372	IMR90	lung:	n/a	chr12:123459958-123459970
23	POLR2A	chr12:123458857-123460826	K562	blood:	n/a	n/a
24	CHD2	chr12:123458947-123460017	GM12878	blood:	n/a	n/a
25	USF1	chr12:123459635-123459956	SK-N-SH_RA	brain:	n/a	n/a
26	RXRA	chr12:123459008-123459906	GM12878	blood:	n/a	n/a
27	YY1	chr12:123459595-123459884	HCT-116	colon:	n/a	n/a
28	SPI1	chr12:123459000-123460130	HL-60	blood:	n/a	chr12:123459506-123459513 chr12:123459957-123459970
29	ATF3	chr12:123458842-123459971	A549	lung:	n/a	chr12:123459623-123459631
30	POLR2A	chr12:123458680-123461169	SK-N-MC	brain:	n/a	n/a
31	MXI1	chr12:123458726-123460238	GM12878	blood:	n/a	n/a
32	YY1	chr12:123458936-123459996	K562	blood:	n/a	n/a
33	TBL1XR1	chr12:123458728-123460230	K562	blood:	n/a	n/a
34	ZNF143	chr12:123458909-123459920	H1-hESC	embryonic stem cell:	n/a	chr12:123459457-123459467
35	TAF1	chr12:123459534-123460040	HepG2	liver:	n/a	n/a
36	RAD21	chr12:123459657-123460141	H1-hESC	embryonic stem cell:	n/a	chr12:123459958-123459970
37	NFYB	chr12:123459642-123459827	GM12878	blood:	n/a	n/a
38	TAF1	chr12:123459587-123459951	GM12891	blood:	n/a	n/a
39	TAF1	chr12:123459547-123459969	GM12878	blood:	n/a	n/a
40	TAF1	chr12:123458864-123460186	MCF-7	breast:	n/a	n/a
41	GTF2F1	chr12:123458934-123460075	K562	blood:	n/a	n/a
42	POLR2A	chr12:123459442-123460029	HepG2	liver:	n/a	n/a
43	CTCF	chr12:123459666-123459869	Lung_OC	lung:	n/a	n/a
44	MAX	chr12:123458955-123460122	A549	lung:	n/a	n/a
45	POLR2A	chr12:123458851-123461232	K562	blood:	n/a	n/a
46	REST	chr12:123458646-123460334	H1-neurons	neurons:	n/a	n/a
47	SPI1	chr12:123459617-123459827	K562	blood:	n/a	n/a
48	WRNIP1	chr12:123458972-123460067	GM12878	blood:	n/a	n/a
49	PAX5	chr12:123459511-123459971	GM12892	blood:	n/a	n/a
50	ELF1	chr12:123458933-123459960	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123459818-123459868	RPTEC	kidney:	n/a
2	chr12:123459818-123459868	BJ	skin:	n/a
3	chr12:123459818-123459868	HRCEpiC	kidney:	n/a
4	chr12:123459818-123459868	PANC-1	pancreas:	n/a
5	chr12:123459803-123459853	A549	lung:	n/a
6	chr12:123459818-123459868	NHBE	bronchial:	n/a
7	chr12:123459818-123459868	HEEpiC	esophagus:	n/a
8	chr12:123459818-123459868	CMK	blood:	n/a
9	chr12:123459803-123459853	HMEC	breast:	n/a
10	chr12:123459803-123459853	GM19239	blood:	n/a
11	chr12:123459803-123459853	HCF	heart:	n/a
12	chr12:123459803-123459853	H1-hESC	embryonic stem cell:	embryo
13	chr12:123459818-123459868	HUVEC	blood vessel:	n/a
14	chr12:123459803-123459853	SK-N-SH	brain:	n/a
15	chr12:123459818-123459868	A549	lung:	n/a
16	chr12:123459803-123459853	AG04449	skin:	fetal
17	chr12:123459818-123459868	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:123459818-123459868	SK-N-MC	brain:	n/a
19	chr12:123459803-123459853	AG10803	skin:	n/a
20	chr12:123459803-123459853	ECC-1	luminal epithelium:	n/a
21	chr12:123459803-123459853	HCPEpiC	choroid plexus:	n/a
22	chr12:123459818-123459868	K562	blood:	n/a
23	chr12:123459803-123459853	GM12878	blood:	n/a
24	chr12:123459803-123459853	HNPCEpiC	eye:	n/a
25	chr12:123459818-123459868	SK-N-SH	brain:	n/a
26	chr12:123459803-123459853	CMK	blood:	n/a
27	chr12:123459803-123459853	ProgFib	skin:	n/a
28	chr12:123459818-123459868	BE2_C	brain:	n/a
29	chr12:123459818-123459868	U87	brain:	n/a
30	chr12:123459803-123459853	HRE	kidney:	n/a
31	chr12:123459818-123459868	SK-N-SH_RA	brain:	n/a
32	chr12:123459803-123459853	Hela-S3	cervix:	n/a
33	chr12:123459818-123459868	PrEC	prostate:	n/a
34	chr12:123459803-123459853	U87	brain:	n/a
35	chr12:123459818-123459868	HAEpiC	amniotic membrane:	n/a
36	chr12:123459818-123459868	MCF10A-Er-Src	breast:	n/a
37	chr12:123459803-123459853	HL-60	blood:	n/a
38	chr12:123459818-123459868	AG04450	lung:	fetal
39	chr12:123459803-123459853	PANC-1	pancreas:	n/a
40	chr12:123459803-123459853	NT2-D1	testis:	n/a
41	chr12:123459818-123459868	NHDF-neo	bronchial:	n/a
42	chr12:123459803-123459853	HCT-116	colon:	n/a
43	chr12:123459803-123459853	IMR90	lung:	fetal
44	chr12:123459818-123459868	PFSK-1	brain:	n/a
45	chr12:123459818-123459868	GM12878	blood:	n/a
46	chr12:123459818-123459868	HepG2	liver:	n/a
47	chr12:123459803-123459853	LNCaP	prostate:	n/a
48	chr12:123459818-123459868	NB4	blood:	n/a
49	chr12:123459803-123459853	SK-N-SH_RA	brain:	n/a
50	chr12:123459818-123459868	NH-A	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
2	chr12:123458067..123461017-chr12:123715728..123717607,2	MCF-7	breast:
3	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
4	chr12:123444682..123447187-chr12:123459178..123461063,2	K562	blood:
5	chr12:120728398..120730404-chr12:123459731..123462257,2	MCF-7	breast:
6	chr12:123433587..123436454-chr12:123458977..123461529,2	K562	blood:
7	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
8	chr12:57912351..57915137-chr12:123457151..123459849,2	MCF-7	breast:
9	chr12:123344672..123346333-chr12:123459122..123461016,2	MCF-7	breast:
10	chr12:123457894..123461734-chr12:123715409..123718960,7	K562	blood:
11	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB9	TF binding region
OGFOD2	TF binding region
ARL6IP4	TF binding region
ENSG00000256028	TF binding region
OGFOD2	CpG island
ENSG00000256028	CpG island
ABCB9	CpG island
ARL6IP4	CpG island
ENSG00000150967	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123458200-123460200	Active TSS	Hela-S3	cervix
2	chr12:123458400-123460200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123458400-123460200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:123458400-123460200	Active TSS	Colonic Mucosa	Colon
5	chr12:123458400-123460200	Active TSS	Right Ventricle	heart
6	chr12:123458400-123460200	Active TSS	K562	blood
7	chr12:123458400-123460400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:123458400-123460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:123458400-123460400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:123458400-123460400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:123458400-123460400	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:123458400-123460400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:123458400-123460400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:123458400-123460400	Active TSS	Brain Anterior Caudate	brain
15	chr12:123458400-123460400	Active TSS	Pancreas	Pancrea
16	chr12:123458400-123460400	Active TSS	HMEC	breast
17	chr12:123458400-123460400	Active TSS	HSMM	muscle
18	chr12:123458400-123460400	Active TSS	HSMMtube	muscle
19	chr12:123458400-123460600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:123458400-123460600	Active TSS	A549	lung
21	chr12:123458400-123460800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:123458400-123460800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:123458400-123460800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:123458400-123461200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:123458600-123460000	Active TSS	Fetal Brain Female	brain
26	chr12:123458600-123460200	Active TSS	Esophagus	oesophagus
27	chr12:123458600-123460400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123458600-123460400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:123458600-123460400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:123458600-123460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:123458600-123460400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:123458600-123460400	Active TSS	Fetal Kidney	kidney
33	chr12:123458600-123460400	Active TSS	Fetal Lung	lung
34	chr12:123458600-123460400	Active TSS	Gastric	stomach
35	chr12:123458600-123460400	Active TSS	Left Ventricle	heart
36	chr12:123458600-123460400	Active TSS	Lung	lung
37	chr12:123458600-123460400	Active TSS	Right Atrium	heart
38	chr12:123458600-123460400	Active TSS	NHDF-Ad	bronchial
39	chr12:123458600-123460600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:123458600-123460600	Active TSS	Aorta	Aorta
41	chr12:123458600-123460600	Active TSS	NHLF	lung
42	chr12:123458600-123460800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:123458600-123461000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:123458600-123461000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr12:123458800-123460000	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:123458800-123460200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:123458800-123460200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:123458800-123460200	Active TSS	Brain Hippocampus Middle	brain
49	chr12:123458800-123460200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:123458800-123460200	Active TSS	Fetal Muscle Trunk	muscle

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