Variant report

Variant	rs557490033
Chromosome Location	chr12:56211472-56211473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:61)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:56211246-56212029	GM12878	blood:	n/a	chr12:56211640-56211649 chr12:56211511-56211524
2	PBX3	chr12:56211244-56212161	SK-N-SH	brain:	n/a	n/a
3	SMARCC1	chr12:56210699-56212451	Hela-S3	cervix:	n/a	n/a
4	TAF1	chr12:56210836-56212328	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr12:56210936-56212519	A549	lung:	n/a	chr12:56211516-56211526
6	MAFK	chr12:56211153-56211946	K562	blood:	n/a	n/a
7	YY1	chr12:56211027-56211683	HepG2	liver:	n/a	chr12:56211328-56211339
8	SP2	chr12:56211341-56212146	HepG2	liver:	n/a	chr12:56211714-56211737 chr12:56211614-56211624 chr12:56211688-56211703 chr12:56211660-56211675
9	GABPA	chr12:56210988-56212402	MCF-7	breast:	n/a	n/a
10	REST	chr12:56211261-56211671	HepG2	liver:	n/a	n/a
11	SP4	chr12:56211093-56212046	H1-hESC	embryonic stem cell:	n/a	chr12:56211688-56211704
12	POLR2A	chr12:56210820-56212564	HL-60	blood:	n/a	n/a
13	SIN3AK20	chr12:56210920-56211668	A549	lung:	n/a	n/a
14	NFATC1	chr12:56211244-56212453	GM12878	blood:	n/a	n/a
15	E2F4	chr12:56211260-56211834	GM12878	blood:	n/a	chr12:56211536-56211547
16	YY1	chr12:56210941-56211654	GM12878	blood:	n/a	chr12:56211328-56211339
17	EP300	chr12:56211065-56211970	GM12878	blood:	n/a	chr12:56211854-56211863 chr12:56211133-56211141
18	JUN	chr12:56211209-56211494	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr12:56211452-56212009	HepG2	liver:	n/a	chr12:56211517-56211529 chr12:56211826-56211839
20	USF2	chr12:56211187-56211507	HepG2	liver:	n/a	n/a
21	GTF2F1	chr12:56210938-56212451	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr12:56211256-56211650	HepG2	liver:	n/a	n/a
23	CREB1	chr12:56211376-56212008	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr12:56211053-56212246	K562	blood:	n/a	chr12:56211516-56211526
25	POLR2A	chr12:56211031-56212509	HL-60	blood:	n/a	n/a
26	MYC	chr12:56211461-56211485	HUVEC	blood vessel:	n/a	n/a
27	YY1	chr12:56210647-56212041	SK-N-SH	brain:	n/a	chr12:56211328-56211339
28	IRF3	chr12:56211378-56211860	HepG2	liver:	n/a	chr12:56211402-56211411
29	POLR2A	chr12:56211011-56212039	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr12:56210649-56212606	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr12:56211257-56212412	GM19193	blood:	n/a	n/a
32	POLR2A	chr12:56211044-56213292	GM12891	blood:	n/a	n/a
33	RUNX3	chr12:56211117-56212359	GM12878	blood:	n/a	n/a
34	GABPA	chr12:56211421-56212193	K562	blood:	n/a	n/a
35	SP1	chr12:56210834-56212420	A549	lung:	n/a	chr12:56211948-56211955 chr12:56211805-56211812 chr12:56211605-56211626 chr12:56211793-56211814 chr12:56212049-56212058 chr12:56211760-56211781
36	POLR2A	chr12:56211170-56213050	GM12891	blood:	n/a	n/a
37	POLR2A	chr12:56211259-56212553	K562	blood:	n/a	n/a
38	YY1	chr12:56210813-56212048	H1-hESC	embryonic stem cell:	n/a	chr12:56211328-56211339
39	POLR2A	chr12:56210922-56213472	SK-N-SH	brain:	n/a	n/a
40	NR2F2	chr12:56210739-56212170	K562	blood:	n/a	n/a
41	POLR2A	chr12:56210845-56212410	H1-neurons	neurons:	n/a	n/a
42	SPI1	chr12:56211216-56212187	GM12878	blood:	n/a	chr12:56211693-56211706
43	CCNT2	chr12:56211082-56211884	K562	blood:	n/a	n/a
44	HA-E2F1	chr12:56210810-56212385	MCF-7	breast:	n/a	chr12:56211854-56211864 chr12:56211854-56211869
45	FOXM1	chr12:56211242-56212020	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:56211266-56212088	GM12878	blood:	n/a	n/a
47	GTF2F1	chr12:56211225-56212189	K562	blood:	n/a	n/a
48	YY1	chr12:56211227-56211695	GM12891	blood:	n/a	chr12:56211328-56211339
49	TCF7L2	chr12:56210990-56212313	Hela-S3	cervix:	n/a	n/a
50	MAX	chr12:56210922-56212525	MCF-7	breast:	n/a	chr12:56211516-56211526

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56211444-56211494	HRPEpiC	eye:	n/a
2	chr12:56211444-56211494	HCF	heart:	n/a
3	chr12:56211444-56211494	SK-N-SH	brain:	n/a
4	chr12:56211444-56211494	U87	brain:	n/a
5	chr12:56211444-56211494	HMEC	breast:	n/a
6	chr12:56211444-56211494	AG04450	lung:	fetal
7	chr12:56211444-56211494	AG09319	gingival:	n/a
8	chr12:56211444-56211494	AG04449	skin:	fetal
9	chr12:56211444-56211494	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:56211444-56211494	HNPCEpiC	eye:	n/a
11	chr12:56211444-56211494	AG09309	skin:	n/a
12	chr12:56211444-56211494	NHBE	bronchial:	n/a
13	chr12:56211444-56211494	K562	blood:	n/a
14	chr12:56211444-56211494	SK-N-SH_RA	brain:	n/a
15	chr12:56211444-56211494	BJ	skin:	n/a
16	chr12:56211444-56211494	HCM	heart:	n/a
17	chr12:56211444-56211494	AoSMC	blood vessel:	n/a
18	chr12:56211444-56211494	SKMC	muscle:	n/a
19	chr12:56211444-56211494	NHDF-neo	bronchial:	n/a
20	chr12:56211444-56211494	HL-60	blood:	n/a
21	chr12:56211444-56211494	HEK293	kidney:	embryo
22	chr12:56211444-56211494	MCF10A-Er-Src	breast:	n/a
23	chr12:56211444-56211494	GM12891	blood:	n/a
24	chr12:56211444-56211494	GM19239	blood:	n/a
25	chr12:56211444-56211494	RPTEC	kidney:	n/a
26	chr12:56211444-56211494	BE2_C	brain:	n/a
27	chr12:56211444-56211494	T-47D	breast:	n/a
28	chr12:56211444-56211494	HEEpiC	esophagus:	n/a
29	chr12:56211444-56211494	NB4	blood:	n/a
30	chr12:56211444-56211494	GM12878	blood:	n/a
31	chr12:56211444-56211494	NH-A	brain:	n/a
32	chr12:56211444-56211494	GM06990	blood:	n/a
33	chr12:56211444-56211494	CMK	blood:	n/a
34	chr12:56211444-56211494	SAEC	small airway:	n/a
35	chr12:56211444-56211494	Jurkat	blood:	n/a
36	chr12:56211444-56211494	HAEpiC	amniotic membrane:	n/a
37	chr12:56211444-56211494	Hela-S3	cervix:	n/a
38	chr12:56211444-56211494	HIPEpiC	eye:	n/a
39	chr12:56211444-56211494	HepG2	liver:	n/a
40	chr12:56211444-56211494	IMR90	lung:	fetal
41	chr12:56211444-56211494	AG10803	skin:	n/a
42	chr12:56211444-56211494	HRE	kidney:	n/a
43	chr12:56211444-56211494	ovcar-3	ovarian:	n/a
44	chr12:56211444-56211494	Caco-2	colon:	n/a
45	chr12:56211444-56211494	HRCEpiC	kidney:	n/a
46	chr12:56211444-56211494	LNCaP	prostate:	n/a
47	chr12:56211444-56211494	NT2-D1	testis:	n/a
48	chr12:56211444-56211494	PFSK-1	brain:	n/a
49	chr12:56211444-56211494	HCPEpiC	choroid plexus:	n/a
50	chr12:56211444-56211494	SK-N-MC	brain:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56208117..56217611-chr12:56318345..56328982,45	MCF-7	breast:
2	chr12:56211126..56211988-chr2:85804606..85805115,2	Hela-S3	cervix:
3	chr12:56210407..56211916-chr12:56266892..56269258,2	MCF-7	breast:
4	chr12:56135540..56139368-chr12:56208041..56213329,11	MCF-7	breast:
5	chr12:56136952..56138818-chr12:56210059..56212920,2	MCF-7	breast:
6	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
7	chr12:56122056..56124298-chr12:56209901..56211592,3	MCF-7	breast:
8	chr12:56210044..56216553-chr12:56364276..56371676,13	MCF-7	breast:
9	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
10	chr12:56208204..56214844-chr12:56359426..56363484,9	MCF-7	breast:
11	chr12:56209766..56212313-chr12:56351329..56354004,2	MCF-7	breast:
12	chr12:56135741..56138597-chr12:56211072..56214599,4	K562	blood:
13	chr12:56209991..56213836-chr12:56388557..56392258,6	MCF-7	breast:
14	chr12:56210974..56211707-chr17:7387520..7388138,2	Hela-S3	cervix:
15	chr12:56122035..56125892-chr12:56210581..56213887,4	K562	blood:
16	chr12:56108323..56110419-chr12:56210123..56212582,2	MCF-7	breast:
17	chr12:56210455..56212790-chr12:56435066..56437044,2	K562	blood:
18	chr12:56209755..56212447-chr12:56551879..56553739,2	MCF-7	breast:
19	chr12:56210239..56212423-chr12:56323809..56326781,2	K562	blood:
20	chr12:56208546..56216914-chr12:56318326..56328671,24	MCF-7	breast:
21	chr1:205781522..205782463-chr12:56211416..56212143,2	Hela-S3	cervix:
22	chr12:56209486..56213209-chr12:56366653..56370251,5	MCF-7	breast:
23	chr12:56210626..56213378-chr12:56473835..56475955,2	MCF-7	breast:
24	chr12:56210232..56212783-chr4:146019358..146021941,2	MCF-7	breast:
25	chr12:56211327..56213257-chr12:56331810..56333930,2	K562	blood:
26	chr12:56211319..56212123-chr2:88315287..88316122,2	Hela-S3	cervix:
27	chr12:56210581..56212423-chr12:56323860..56326781,2	K562	blood:
28	chr12:56209786..56211523-chr12:56320983..56323005,2	K562	blood:
29	chr12:56211271..56211916-chr9:136214529..136215250,2	Hela-S3	cervix:
30	chr12:56211453..56212433-chr16:30346609..30347165,2	Hela-S3	cervix:
31	chr12:56208394..56211844-chr12:56510539..56512389,3	MCF-7	breast:
32	chr12:56210260..56213184-chr12:56348200..56352160,4	MCF-7	breast:
33	chr12:56211216..56211748-chr2:101618127..101618681,2	Hela-S3	cervix:
34	chr12:56121599..56124065-chr12:56209598..56212420,4	MCF-7	breast:
35	chr12:56211192..56211817-chr14:20922676..20923180,2	Hela-S3	cervix:
36	chr12:56209963..56212805-chr12:56473917..56475602,2	MCF-7	breast:
37	chr12:56210928..56213016-chr12:57081918..57083884,2	K562	blood:
38	chr12:56211151..56211748-chr9:123604856..123605782,2	Hela-S3	cervix:
39	chr12:56210386..56214682-chr12:56319005..56323153,8	K562	blood:
40	chr12:56211091..56211902-chr15:65588152..65588807,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ORMDL2	TF binding region
ORMDL2	CpG island
ENSG00000133065	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000095261	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000148303	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000207339	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000148297	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000226752	Chromatin interaction
ENSG00000164163	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000164162	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000257809	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv16693	chr12:56211376-56212111	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
3	nsv559010	chr12:56211404-56212068	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	43 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	chr12:56209400-56212200	Active TSS	Fetal Brain Female	brain
2	chr12:56209400-56212400	Active TSS	NHLF	lung
3	chr12:56209800-56212200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56209800-56212200	Active TSS	Fetal Thymus	thymus
5	chr12:56209800-56212600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:56209800-56212600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:56209800-56212800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:56209800-56213000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:56210000-56212200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56210000-56212200	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:56210000-56212200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:56210000-56212200	Active TSS	A549	lung
13	chr12:56210000-56212200	Active TSS	GM12878-XiMat	blood
14	chr12:56210000-56212400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:56210000-56212400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:56210000-56212400	Active TSS	K562	blood
17	chr12:56210000-56212600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:56210000-56212600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:56210000-56212600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:56210000-56212600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:56210000-56212600	Active TSS	NHEK	skin
22	chr12:56210000-56212800	Active TSS	HMEC	breast
23	chr12:56210000-56212800	Active TSS	HSMM	muscle
24	chr12:56210200-56211600	Active TSS	Right Atrium	heart
25	chr12:56210200-56212200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:56210200-56212200	Active TSS	Fetal Muscle Leg	muscle
27	chr12:56210200-56212400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:56210200-56212400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:56210200-56212400	Active TSS	Fetal Intestine Large	intestine
30	chr12:56210200-56212400	Active TSS	Ovary	ovary
31	chr12:56210200-56212600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:56210200-56212600	Active TSS	Aorta	Aorta
33	chr12:56210200-56212600	Active TSS	HSMMtube	muscle
34	chr12:56210200-56212800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:56210200-56212800	Active TSS	Right Ventricle	heart
36	chr12:56210400-56212200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:56210400-56212200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:56210400-56212200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:56210400-56212200	Active TSS	Brain Angular Gyrus	brain
40	chr12:56210400-56212200	Active TSS	Brain Anterior Caudate	brain
41	chr12:56210400-56212200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:56210400-56212200	Active TSS	Colon Smooth Muscle	Colon
43	chr12:56210400-56212200	Active TSS	Fetal Kidney	kidney
44	chr12:56210400-56212200	Active TSS	Fetal Stomach	stomach
45	chr12:56210400-56212200	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:56210400-56212200	Active TSS	HUVEC	blood vessel
47	chr12:56210400-56212200	Active TSS	NH-A	brain
48	chr12:56210400-56212400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:56210400-56212400	Active TSS	Fetal Intestine Small	intestine
50	chr12:56210400-56212400	Active TSS	Pancreatic Islets	Pancreatic Islet

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