Variant report

Variant	rs56280080
Chromosome Location	chr1:63153202-63153203
allele	-/GAACA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:63153067-63153503	ProgFib	skin:	n/a	n/a
2	CHD2	chr1:63153018-63153218	HepG2	liver:	n/a	n/a
3	MXI1	chr1:63153126-63154533	HepG2	liver:	n/a	n/a
4	TCF7L2	chr1:63153092-63153432	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr1:63153100-63154478	HepG2	liver:	n/a	n/a
6	MAZ	chr1:63153111-63153475	HepG2	liver:	n/a	n/a
7	MAX	chr1:63153107-63154479	K562	blood:	n/a	n/a
8	BHLHE40	chr1:63153099-63153368	K562	blood:	n/a	n/a
9	ELF1	chr1:63153139-63154444	GM12878	blood:	n/a	chr1:63154041-63154053
10	UBTF	chr1:63153079-63154492	K562	blood:	n/a	n/a
11	POLR2A	chr1:63153073-63154799	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr1:63153097-63153297	HepG2	liver:	n/a	n/a
13	ZNF143	chr1:63153054-63154392	GM12878	blood:	n/a	chr1:63153685-63153695 chr1:63154059-63154077 chr1:63154131-63154149
14	POLR2A	chr1:63153176-63153330	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:63152914-63154755	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr1:63153066-63153452	Hela-S3	cervix:	n/a	n/a
17	ARID3A	chr1:63153014-63153399	HepG2	liver:	n/a	n/a
18	CEBPD	chr1:63153093-63153521	HepG2	liver:	n/a	n/a
19	RUNX3	chr1:63153201-63154489	GM12878	blood:	n/a	n/a
20	ZNF263	chr1:63153021-63154699	HEK293-T-REx	kidney:	n/a	chr1:63154134-63154143
21	TBP	chr1:63153008-63154675	K562	blood:	n/a	n/a
22	POLR2A	chr1:63153091-63153408	MCF-7	breast:	n/a	n/a
23	RCOR1	chr1:63153080-63154427	K562	blood:	n/a	n/a
24	MAX	chr1:63152958-63154536	HepG2	liver:	n/a	n/a
25	EP300	chr1:63153111-63153203	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr1:63153103-63153718	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr1:63153050-63153323	MCF10A-Er-Src	breast:	n/a	n/a
28	RCOR1	chr1:63152200-63154891	IMR90	lung:	n/a	n/a
29	TAF1	chr1:63153151-63153472	K562	blood:	n/a	n/a
30	EBF1	chr1:63153100-63153497	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:63153160-63154648	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr1:63153090-63154669	H1-hESC	embryonic stem cell:	n/a	n/a
33	HEY1	chr1:63153081-63153493	HepG2	liver:	n/a	n/a
34	CTCF	chr1:63153180-63153330	GM12871	blood:	n/a	n/a
35	MAZ	chr1:63152926-63154654	IMR90	lung:	n/a	n/a
36	MAX	chr1:63153082-63154707	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr1:63152965-63153453	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:63153103-63154447	K562	blood:	n/a	n/a
39	ZNF263	chr1:63153137-63154508	K562	blood:	n/a	chr1:63154134-63154143
40	TBP	chr1:63153103-63153425	HepG2	liver:	n/a	n/a
41	HNF4A	chr1:63153180-63153522	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:63153166-63153445	MCF-7	breast:	n/a	n/a
43	WRNIP1	chr1:63153056-63153319	GM12878	blood:	n/a	n/a
44	MYC	chr1:63153185-63154513	K562	blood:	n/a	n/a
45	POLR2A	chr1:63152977-63154618	HepG2	liver:	n/a	n/a
46	CCNT2	chr1:63153123-63154453	K562	blood:	n/a	n/a
47	POLR2A	chr1:63153030-63153476	K562	blood:	n/a	n/a
48	HEY1	chr1:63153014-63154392	HepG2	liver:	n/a	chr1:63153631-63153646
49	POLR2A	chr1:63152870-63154627	MCF10A-Er-Src	breast:	n/a	n/a
50	MYBL2	chr1:63152979-63153504	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:63153194-63153244	HEK293	kidney:	embryo
2	chr1:63153194-63153244	Caco-2	colon:	n/a
3	chr1:63153194-63153244	SKMC	muscle:	n/a
4	chr1:63153194-63153244	HRPEpiC	eye:	n/a
5	chr1:63153194-63153244	NB4	blood:	n/a
6	chr1:63153194-63153244	HRE	kidney:	n/a
7	chr1:63153194-63153244	AG10803	skin:	n/a
8	chr1:63153194-63153244	ovcar-3	ovarian:	n/a
9	chr1:63153194-63153244	HCM	heart:	n/a
10	chr1:63153194-63153244	ProgFib	skin:	n/a
11	chr1:63153194-63153244	HL-60	blood:	n/a
12	chr1:63153194-63153244	LNCaP	prostate:	n/a
13	chr1:63153194-63153244	BJ	skin:	n/a
14	chr1:63153194-63153244	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:63153194-63153244	HIPEpiC	eye:	n/a
16	chr1:63153194-63153244	PANC-1	pancreas:	n/a
17	chr1:63153194-63153244	NHBE	bronchial:	n/a
18	chr1:63153194-63153244	NHDF-neo	bronchial:	n/a
19	chr1:63153194-63153244	HNPCEpiC	eye:	n/a
20	chr1:63153194-63153244	HepG2	liver:	n/a
21	chr1:63153194-63153244	HCF	heart:	n/a
22	chr1:63153194-63153244	NH-A	brain:	n/a
23	chr1:63153194-63153244	Hepatocyte	liver:	n/a
24	chr1:63153194-63153244	BE2_C	brain:	n/a
25	chr1:63153194-63153244	MCF-7	breast:	n/a
26	chr1:63153194-63153244	GM12891	blood:	n/a
27	chr1:63153194-63153244	GM19239	blood:	n/a
28	chr1:63153194-63153244	A549	lung:	n/a
29	chr1:63153194-63153244	GM06990	blood:	n/a
30	chr1:63153194-63153244	Hela-S3	cervix:	n/a
31	chr1:63153194-63153244	U87	brain:	n/a
32	chr1:63153194-63153244	HRCEpiC	kidney:	n/a
33	chr1:63153194-63153244	Jurkat	blood:	n/a
34	chr1:63153194-63153244	ECC-1	luminal epithelium:	n/a
35	chr1:63153194-63153244	HUVEC	blood vessel:	n/a
36	chr1:63153194-63153244	GM12892	blood:	n/a
37	chr1:63153194-63153244	AG09309	skin:	n/a
38	chr1:63153194-63153244	AG04450	lung:	fetal
39	chr1:63153194-63153244	T-47D	breast:	n/a
40	chr1:63153194-63153244	PFSK-1	brain:	n/a
41	chr1:63153194-63153244	SAEC	small airway:	n/a
42	chr1:63153194-63153244	AG04449	skin:	fetal
43	chr1:63153194-63153244	AoSMC	blood vessel:	n/a
44	chr1:63153194-63153244	NT2-D1	testis:	n/a
45	chr1:63153194-63153244	HCPEpiC	choroid plexus:	n/a
46	chr1:63153194-63153244	GM12878	blood:	n/a
47	chr1:63153194-63153244	HCT-116	colon:	n/a
48	chr1:63153194-63153244	HEEpiC	esophagus:	n/a
49	chr1:63153194-63153244	SK-N-SH_RA	brain:	n/a
50	chr1:63153194-63153244	HAEpiC	amniotic membrane:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
2	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:
3	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:
4	chr1:63146913..63149001-chr1:63152180..63153818,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000235545	CpG island
ENSG00000125703	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3443740	chr1:63152389-63155337	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv2433821	chr1:63153200-63153204	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv2181570	chr1:63153200-63153205	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:63152200-63154800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:63152200-63155000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:63152200-63155200	Active TSS	NHLF	lung
5	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:63152400-63154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:63152400-63154800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:63152400-63154800	Active TSS	Fetal Muscle Trunk	muscle
9	chr1:63152400-63154800	Active TSS	Psoas Muscle	Psoas
10	chr1:63152400-63155200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:63152600-63153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:63152600-63153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:63152600-63154600	Active TSS	Fetal Intestine Small	intestine
14	chr1:63152600-63154600	Active TSS	HSMMtube	muscle
15	chr1:63152600-63154800	Active TSS	Fetal Intestine Large	intestine
16	chr1:63152600-63155000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:63152600-63155000	Active TSS	Brain Anterior Caudate	brain
18	chr1:63152600-63155000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:63152600-63155000	Active TSS	NHDF-Ad	bronchial
20	chr1:63152600-63155200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:63152600-63155400	Active TSS	Fetal Stomach	stomach
22	chr1:63152600-63155600	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:63152800-63153400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:63152800-63153400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:63152800-63153400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:63152800-63153400	Flanking Active TSS	Fetal Thymus	thymus
27	chr1:63152800-63153600	Active TSS	Right Atrium	heart
28	chr1:63152800-63154200	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:63152800-63154400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:63152800-63154400	Active TSS	Brain Hippocampus Middle	brain
31	chr1:63152800-63154400	Active TSS	Fetal Muscle Leg	muscle
32	chr1:63152800-63154600	Active TSS	Primary T cells from cord blood	blood
33	chr1:63152800-63154800	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:63152800-63154800	Active TSS	Thymus	Thymus
35	chr1:63152800-63154800	Active TSS	HSMM	muscle
36	chr1:63152800-63155000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr1:63152800-63155000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:63152800-63155000	Active TSS	Fetal Brain Female	brain
39	chr1:63152800-63155200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:63152800-63155200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:63152800-63155200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:63152800-63155200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:63152800-63155200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:63152800-63155200	Active TSS	Fetal Kidney	kidney
45	chr1:63152800-63155200	Active TSS	Stomach Mucosa	stomach
46	chr1:63152800-63155400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:63152800-63155600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:63152800-63155600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:63152800-63155600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:63152800-63156200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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